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Items: 1 to 20 of 409

1.

rs1489165384 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    5:36265508 (GRCh38)
    5:36265610 (GRCh37)
    Canonical SPDI:
    NC_000005.10:36265507:T:G
    Gene:
    RANBP3L (Varview), LOC124900962 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000066/2 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.36265508T>G, NC_000005.9:g.36265610T>G, NM_145000.5:c.281A>C, NM_145000.4:c.281A>C, NM_145000.3:c.281A>C, XM_006714452.5:c.356A>C, XM_006714452.4:c.356A>C, XM_006714452.3:c.356A>C, XM_006714452.2:c.356A>C, XM_006714452.1:c.356A>C, XM_006714453.5:c.296A>C, XM_006714453.4:c.296A>C, XM_006714453.3:c.296A>C, XM_006714453.2:c.296A>C, XM_006714453.1:c.296A>C, XM_006714455.5:c.221A>C, XM_006714455.4:c.221A>C, XM_006714455.3:c.221A>C, XM_006714455.2:c.221A>C, XM_006714455.1:c.221A>C, NM_001161429.3:c.356A>C, NM_001161429.2:c.356A>C, NM_001161429.1:c.356A>C, NM_001323275.2:c.296A>C, NM_001323275.1:c.296A>C, NM_001323278.2:c.221A>C, NM_001323278.1:c.221A>C, NM_001323273.2:c.281A>C, NM_001323273.1:c.281A>C, NM_001323274.2:c.356A>C, NM_001323274.1:c.356A>C, NM_001323276.2:c.296A>C, NM_001323276.1:c.296A>C, NM_001323277.2:c.281A>C, NM_001323277.1:c.281A>C, NM_001323280.2:c.221A>C, NM_001323280.1:c.221A>C, NP_659437.3:p.Asn94Thr, XP_006714515.1:p.Asn119Thr, XP_006714516.1:p.Asn99Thr, XP_006714518.1:p.Asn74Thr, NP_001154901.1:p.Asn119Thr, NP_001310204.1:p.Asn99Thr, NP_001310207.1:p.Asn74Thr, NP_001310202.1:p.Asn94Thr, NP_001310203.1:p.Asn119Thr, NP_001310205.1:p.Asn99Thr, NP_001310206.1:p.Asn94Thr, NP_001310209.1:p.Asn74Thr

    2.

    rs1486852879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:36301347 (GRCh38)
      5:36301449 (GRCh37)
      Canonical SPDI:
      NC_000005.10:36301346:G:A
      Gene:
      RANBP3L (Varview), LOC124900962 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,stop_gained
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.36301347G>A, NC_000005.9:g.36301449G>A, NM_145000.5:c.70C>T, NM_145000.4:c.70C>T, NM_145000.3:c.70C>T, XM_006714452.5:c.70C>T, XM_006714452.4:c.70C>T, XM_006714452.3:c.70C>T, XM_006714452.2:c.70C>T, XM_006714452.1:c.70C>T, XM_006714453.5:c.70C>T, XM_006714453.4:c.70C>T, XM_006714453.3:c.70C>T, XM_006714453.2:c.70C>T, XM_006714453.1:c.70C>T, XM_006714455.5:c.70C>T, XM_006714455.4:c.70C>T, XM_006714455.3:c.70C>T, XM_006714455.2:c.70C>T, XM_006714455.1:c.70C>T, NM_001161429.3:c.70C>T, NM_001161429.2:c.70C>T, NM_001161429.1:c.70C>T, NM_001323275.2:c.70C>T, NM_001323275.1:c.70C>T, NM_001323278.2:c.70C>T, NM_001323278.1:c.70C>T, NM_001323279.2:c.70C>T, NM_001323279.1:c.70C>T, NM_001323273.2:c.70C>T, NM_001323273.1:c.70C>T, NM_001323274.2:c.70C>T, NM_001323274.1:c.70C>T, NM_001323276.2:c.70C>T, NM_001323276.1:c.70C>T, NM_001323277.2:c.70C>T, NM_001323277.1:c.70C>T, NM_001323280.2:c.70C>T, NM_001323280.1:c.70C>T, NP_659437.3:p.Gln24Ter, XP_006714515.1:p.Gln24Ter, XP_006714516.1:p.Gln24Ter, XP_006714518.1:p.Gln24Ter, NP_001154901.1:p.Gln24Ter, NP_001310204.1:p.Gln24Ter, NP_001310207.1:p.Gln24Ter, NP_001310208.1:p.Gln24Ter, NP_001310202.1:p.Gln24Ter, NP_001310203.1:p.Gln24Ter, NP_001310205.1:p.Gln24Ter, NP_001310206.1:p.Gln24Ter, NP_001310209.1:p.Gln24Ter

      3.

      rs1485952921 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:36271253 (GRCh38)
        5:36271355 (GRCh37)
        Canonical SPDI:
        NC_000005.10:36271252:C:T
        Gene:
        RANBP3L (Varview), LOC124900962 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000005.10:g.36271253C>T, NC_000005.9:g.36271355C>T, NM_145000.5:c.150G>A, NM_145000.4:c.150G>A, NM_145000.3:c.150G>A, XM_006714452.5:c.150G>A, XM_006714452.4:c.150G>A, XM_006714452.3:c.150G>A, XM_006714452.2:c.150G>A, XM_006714452.1:c.150G>A, XM_006714453.5:c.150G>A, XM_006714453.4:c.150G>A, XM_006714453.3:c.150G>A, XM_006714453.2:c.150G>A, XM_006714453.1:c.150G>A, XM_006714455.5:c.150G>A, XM_006714455.4:c.150G>A, XM_006714455.3:c.150G>A, XM_006714455.2:c.150G>A, XM_006714455.1:c.150G>A, NM_001161429.3:c.150G>A, NM_001161429.2:c.150G>A, NM_001161429.1:c.150G>A, NM_001323275.2:c.150G>A, NM_001323275.1:c.150G>A, NM_001323278.2:c.150G>A, NM_001323278.1:c.150G>A, NM_001323279.2:c.150G>A, NM_001323279.1:c.150G>A, NM_001323273.2:c.150G>A, NM_001323273.1:c.150G>A, NM_001323274.2:c.150G>A, NM_001323274.1:c.150G>A, NM_001323276.2:c.150G>A, NM_001323276.1:c.150G>A, NM_001323277.2:c.150G>A, NM_001323277.1:c.150G>A, NM_001323280.2:c.150G>A, NM_001323280.1:c.150G>A

        4.

        rs1485850751 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:36253786 (GRCh38)
          5:36253888 (GRCh37)
          Canonical SPDI:
          NC_000005.10:36253785:A:G
          Gene:
          RANBP3L (Varview), LOC124900962 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.36253786A>G, NC_000005.9:g.36253888A>G, NM_145000.5:c.1028T>C, NM_145000.4:c.1028T>C, NM_145000.3:c.1028T>C, XM_006714452.5:c.1103T>C, XM_006714452.4:c.1103T>C, XM_006714452.3:c.1103T>C, XM_006714452.2:c.1103T>C, XM_006714452.1:c.1103T>C, XM_006714453.5:c.1043T>C, XM_006714453.4:c.1043T>C, XM_006714453.3:c.1043T>C, XM_006714453.2:c.1043T>C, XM_006714453.1:c.1043T>C, XM_006714455.5:c.968T>C, XM_006714455.4:c.968T>C, XM_006714455.3:c.968T>C, XM_006714455.2:c.968T>C, XM_006714455.1:c.968T>C, NM_001161429.3:c.1103T>C, NM_001161429.2:c.1103T>C, NM_001161429.1:c.1103T>C, NM_001323275.2:c.1043T>C, NM_001323275.1:c.1043T>C, NM_001323278.2:c.968T>C, NM_001323278.1:c.968T>C, NM_001323279.2:c.956T>C, NM_001323279.1:c.956T>C, NM_001323273.2:c.1028T>C, NM_001323273.1:c.1028T>C, NM_001323274.2:c.1103T>C, NM_001323274.1:c.1103T>C, NM_001323276.2:c.1043T>C, NM_001323276.1:c.1043T>C, NM_001323277.2:c.1028T>C, NM_001323277.1:c.1028T>C, NM_001323280.2:c.968T>C, NM_001323280.1:c.968T>C, NP_659437.3:p.Met343Thr, XP_006714515.1:p.Met368Thr, XP_006714516.1:p.Met348Thr, XP_006714518.1:p.Met323Thr, NP_001154901.1:p.Met368Thr, NP_001310204.1:p.Met348Thr, NP_001310207.1:p.Met323Thr, NP_001310208.1:p.Met319Thr, NP_001310202.1:p.Met343Thr, NP_001310203.1:p.Met368Thr, NP_001310205.1:p.Met348Thr, NP_001310206.1:p.Met343Thr, NP_001310209.1:p.Met323Thr

          5.

          rs1484892191 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            5:36257459 (GRCh38)
            5:36257561 (GRCh37)
            Canonical SPDI:
            NC_000005.10:36257458:C:G
            Gene:
            RANBP3L (Varview), LOC124900962 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000019/5 (TOPMED)
            HGVS:
            NC_000005.10:g.36257459C>G, NC_000005.9:g.36257561C>G, NM_145000.5:c.767G>C, NM_145000.4:c.767G>C, NM_145000.3:c.767G>C, XM_006714452.5:c.842G>C, XM_006714452.4:c.842G>C, XM_006714452.3:c.842G>C, XM_006714452.2:c.842G>C, XM_006714452.1:c.842G>C, XM_006714453.5:c.782G>C, XM_006714453.4:c.782G>C, XM_006714453.3:c.782G>C, XM_006714453.2:c.782G>C, XM_006714453.1:c.782G>C, XM_006714455.5:c.707G>C, XM_006714455.4:c.707G>C, XM_006714455.3:c.707G>C, XM_006714455.2:c.707G>C, XM_006714455.1:c.707G>C, NM_001161429.3:c.842G>C, NM_001161429.2:c.842G>C, NM_001161429.1:c.842G>C, NM_001323275.2:c.782G>C, NM_001323275.1:c.782G>C, NM_001323278.2:c.707G>C, NM_001323278.1:c.707G>C, NM_001323279.2:c.695G>C, NM_001323279.1:c.695G>C, NM_001323273.2:c.767G>C, NM_001323273.1:c.767G>C, NM_001323274.2:c.842G>C, NM_001323274.1:c.842G>C, NM_001323276.2:c.782G>C, NM_001323276.1:c.782G>C, NM_001323277.2:c.767G>C, NM_001323277.1:c.767G>C, NM_001323280.2:c.707G>C, NM_001323280.1:c.707G>C, NP_659437.3:p.Ser256Thr, XP_006714515.1:p.Ser281Thr, XP_006714516.1:p.Ser261Thr, XP_006714518.1:p.Ser236Thr, NP_001154901.1:p.Ser281Thr, NP_001310204.1:p.Ser261Thr, NP_001310207.1:p.Ser236Thr, NP_001310208.1:p.Ser232Thr, NP_001310202.1:p.Ser256Thr, NP_001310203.1:p.Ser281Thr, NP_001310205.1:p.Ser261Thr, NP_001310206.1:p.Ser256Thr, NP_001310209.1:p.Ser236Thr

            6.

            rs1479171720 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:36260843 (GRCh38)
              5:36260945 (GRCh37)
              Canonical SPDI:
              NC_000005.10:36260842:T:C
              Gene:
              RANBP3L (Varview), LOC124900962 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.36260843T>C, NC_000005.9:g.36260945T>C, NM_145000.5:c.606A>G, NM_145000.4:c.606A>G, NM_145000.3:c.606A>G, XM_006714452.5:c.681A>G, XM_006714452.4:c.681A>G, XM_006714452.3:c.681A>G, XM_006714452.2:c.681A>G, XM_006714452.1:c.681A>G, XM_006714453.5:c.621A>G, XM_006714453.4:c.621A>G, XM_006714453.3:c.621A>G, XM_006714453.2:c.621A>G, XM_006714453.1:c.621A>G, XM_006714455.5:c.546A>G, XM_006714455.4:c.546A>G, XM_006714455.3:c.546A>G, XM_006714455.2:c.546A>G, XM_006714455.1:c.546A>G, NM_001161429.3:c.681A>G, NM_001161429.2:c.681A>G, NM_001161429.1:c.681A>G, NM_001323275.2:c.621A>G, NM_001323275.1:c.621A>G, NM_001323278.2:c.546A>G, NM_001323278.1:c.546A>G, NM_001323279.2:c.534A>G, NM_001323279.1:c.534A>G, NM_001323273.2:c.606A>G, NM_001323273.1:c.606A>G, NM_001323274.2:c.681A>G, NM_001323274.1:c.681A>G, NM_001323276.2:c.621A>G, NM_001323276.1:c.621A>G, NM_001323277.2:c.606A>G, NM_001323277.1:c.606A>G, NM_001323280.2:c.546A>G, NM_001323280.1:c.546A>G

              7.

              rs1473588579 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                5:36265484 (GRCh38)
                5:36265586 (GRCh37)
                Canonical SPDI:
                NC_000005.10:36265483:A:T
                Gene:
                RANBP3L (Varview), LOC124900962 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000005.10:g.36265484A>T, NC_000005.9:g.36265586A>T, NM_145000.5:c.305T>A, NM_145000.4:c.305T>A, NM_145000.3:c.305T>A, XM_006714452.5:c.380T>A, XM_006714452.4:c.380T>A, XM_006714452.3:c.380T>A, XM_006714452.2:c.380T>A, XM_006714452.1:c.380T>A, XM_006714453.5:c.320T>A, XM_006714453.4:c.320T>A, XM_006714453.3:c.320T>A, XM_006714453.2:c.320T>A, XM_006714453.1:c.320T>A, XM_006714455.5:c.245T>A, XM_006714455.4:c.245T>A, XM_006714455.3:c.245T>A, XM_006714455.2:c.245T>A, XM_006714455.1:c.245T>A, NM_001161429.3:c.380T>A, NM_001161429.2:c.380T>A, NM_001161429.1:c.380T>A, NM_001323275.2:c.320T>A, NM_001323275.1:c.320T>A, NM_001323278.2:c.245T>A, NM_001323278.1:c.245T>A, NM_001323273.2:c.305T>A, NM_001323273.1:c.305T>A, NM_001323274.2:c.380T>A, NM_001323274.1:c.380T>A, NM_001323276.2:c.320T>A, NM_001323276.1:c.320T>A, NM_001323277.2:c.305T>A, NM_001323277.1:c.305T>A, NM_001323280.2:c.245T>A, NM_001323280.1:c.245T>A, NP_659437.3:p.Val102Glu, XP_006714515.1:p.Val127Glu, XP_006714516.1:p.Val107Glu, XP_006714518.1:p.Val82Glu, NP_001154901.1:p.Val127Glu, NP_001310204.1:p.Val107Glu, NP_001310207.1:p.Val82Glu, NP_001310202.1:p.Val102Glu, NP_001310203.1:p.Val127Glu, NP_001310205.1:p.Val107Glu, NP_001310206.1:p.Val102Glu, NP_001310209.1:p.Val82Glu

                8.

                rs1473301089 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  5:36255471 (GRCh38)
                  5:36255573 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:36255470:T:G
                  Gene:
                  RANBP3L (Varview), LOC124900962 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000005.10:g.36255471T>G, NC_000005.9:g.36255573T>G, NM_145000.5:c.1023A>C, NM_145000.4:c.1023A>C, NM_145000.3:c.1023A>C, XM_006714452.5:c.1098A>C, XM_006714452.4:c.1098A>C, XM_006714452.3:c.1098A>C, XM_006714452.2:c.1098A>C, XM_006714452.1:c.1098A>C, XM_006714453.5:c.1038A>C, XM_006714453.4:c.1038A>C, XM_006714453.3:c.1038A>C, XM_006714453.2:c.1038A>C, XM_006714453.1:c.1038A>C, XM_006714455.5:c.963A>C, XM_006714455.4:c.963A>C, XM_006714455.3:c.963A>C, XM_006714455.2:c.963A>C, XM_006714455.1:c.963A>C, NM_001161429.3:c.1098A>C, NM_001161429.2:c.1098A>C, NM_001161429.1:c.1098A>C, NM_001323275.2:c.1038A>C, NM_001323275.1:c.1038A>C, NM_001323278.2:c.963A>C, NM_001323278.1:c.963A>C, NM_001323279.2:c.951A>C, NM_001323279.1:c.951A>C, NM_001323273.2:c.1023A>C, NM_001323273.1:c.1023A>C, NM_001323274.2:c.1098A>C, NM_001323274.1:c.1098A>C, NM_001323276.2:c.1038A>C, NM_001323276.1:c.1038A>C, NM_001323277.2:c.1023A>C, NM_001323277.1:c.1023A>C, NM_001323280.2:c.963A>C, NM_001323280.1:c.963A>C

                  9.

                  rs1472643881 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:36249682 (GRCh38)
                    5:36249784 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:36249681:G:A
                    Gene:
                    RANBP3L (Varview), LOC124900962 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000047/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1472064198 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:36264976 (GRCh38)
                      5:36265078 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:36264975:C:T
                      Gene:
                      RANBP3L (Varview), LOC124900962 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.36264976C>T, NC_000005.9:g.36265078C>T, NM_145000.5:c.463G>A, NM_145000.4:c.463G>A, NM_145000.3:c.463G>A, XM_006714452.5:c.538G>A, XM_006714452.4:c.538G>A, XM_006714452.3:c.538G>A, XM_006714452.2:c.538G>A, XM_006714452.1:c.538G>A, XM_006714453.5:c.478G>A, XM_006714453.4:c.478G>A, XM_006714453.3:c.478G>A, XM_006714453.2:c.478G>A, XM_006714453.1:c.478G>A, XM_006714455.5:c.403G>A, XM_006714455.4:c.403G>A, XM_006714455.3:c.403G>A, XM_006714455.2:c.403G>A, XM_006714455.1:c.403G>A, NM_001161429.3:c.538G>A, NM_001161429.2:c.538G>A, NM_001161429.1:c.538G>A, NM_001323275.2:c.478G>A, NM_001323275.1:c.478G>A, NM_001323278.2:c.403G>A, NM_001323278.1:c.403G>A, NM_001323279.2:c.391G>A, NM_001323279.1:c.391G>A, NM_001323273.2:c.463G>A, NM_001323273.1:c.463G>A, NM_001323274.2:c.538G>A, NM_001323274.1:c.538G>A, NM_001323276.2:c.478G>A, NM_001323276.1:c.478G>A, NM_001323277.2:c.463G>A, NM_001323277.1:c.463G>A, NM_001323280.2:c.403G>A, NM_001323280.1:c.403G>A, NP_659437.3:p.Glu155Lys, XP_006714515.1:p.Glu180Lys, XP_006714516.1:p.Glu160Lys, XP_006714518.1:p.Glu135Lys, NP_001154901.1:p.Glu180Lys, NP_001310204.1:p.Glu160Lys, NP_001310207.1:p.Glu135Lys, NP_001310208.1:p.Glu131Lys, NP_001310202.1:p.Glu155Lys, NP_001310203.1:p.Glu180Lys, NP_001310205.1:p.Glu160Lys, NP_001310206.1:p.Glu155Lys, NP_001310209.1:p.Glu135Lys

                      11.

                      rs1470000287 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        5:36249658 (GRCh38)
                        5:36249760 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:36249657:G:T
                        Gene:
                        RANBP3L (Varview), LOC124900962 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000094/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1466314132 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:36256950 (GRCh38)
                          5:36257052 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:36256949:A:G
                          Gene:
                          RANBP3L (Varview), LOC124900962 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000005.10:g.36256950A>G, NC_000005.9:g.36257052A>G, NM_145000.5:c.894T>C, NM_145000.4:c.894T>C, NM_145000.3:c.894T>C, XM_006714452.5:c.969T>C, XM_006714452.4:c.969T>C, XM_006714452.3:c.969T>C, XM_006714452.2:c.969T>C, XM_006714452.1:c.969T>C, XM_006714453.5:c.909T>C, XM_006714453.4:c.909T>C, XM_006714453.3:c.909T>C, XM_006714453.2:c.909T>C, XM_006714453.1:c.909T>C, XM_006714455.5:c.834T>C, XM_006714455.4:c.834T>C, XM_006714455.3:c.834T>C, XM_006714455.2:c.834T>C, XM_006714455.1:c.834T>C, NM_001161429.3:c.969T>C, NM_001161429.2:c.969T>C, NM_001161429.1:c.969T>C, NM_001323275.2:c.909T>C, NM_001323275.1:c.909T>C, NM_001323278.2:c.834T>C, NM_001323278.1:c.834T>C, NM_001323279.2:c.822T>C, NM_001323279.1:c.822T>C, NM_001323273.2:c.894T>C, NM_001323273.1:c.894T>C, NM_001323274.2:c.969T>C, NM_001323274.1:c.969T>C, NM_001323276.2:c.909T>C, NM_001323276.1:c.909T>C, NM_001323277.2:c.894T>C, NM_001323277.1:c.894T>C, NM_001323280.2:c.834T>C, NM_001323280.1:c.834T>C

                          13.

                          rs1463130586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            5:36253696 (GRCh38)
                            5:36253798 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:36253695:A:G
                            Gene:
                            RANBP3L (Varview), LOC124900962 (Varview)
                            Functional Consequence:
                            missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.36253696A>G, NC_000005.9:g.36253798A>G, NM_145000.5:c.1118T>C, NM_145000.4:c.1118T>C, NM_145000.3:c.1118T>C, XM_006714452.5:c.1193T>C, XM_006714452.4:c.1193T>C, XM_006714452.3:c.1193T>C, XM_006714452.2:c.1193T>C, XM_006714452.1:c.1193T>C, XM_006714453.5:c.1133T>C, XM_006714453.4:c.1133T>C, XM_006714453.3:c.1133T>C, XM_006714453.2:c.1133T>C, XM_006714453.1:c.1133T>C, XM_006714455.5:c.1058T>C, XM_006714455.4:c.1058T>C, XM_006714455.3:c.1058T>C, XM_006714455.2:c.1058T>C, XM_006714455.1:c.1058T>C, NM_001161429.3:c.1193T>C, NM_001161429.2:c.1193T>C, NM_001161429.1:c.1193T>C, NM_001323275.2:c.1133T>C, NM_001323275.1:c.1133T>C, NM_001323278.2:c.1058T>C, NM_001323278.1:c.1058T>C, NM_001323279.2:c.1046T>C, NM_001323279.1:c.1046T>C, NM_001323273.2:c.1118T>C, NM_001323273.1:c.1118T>C, NM_001323274.2:c.1193T>C, NM_001323274.1:c.1193T>C, NM_001323276.2:c.1133T>C, NM_001323276.1:c.1133T>C, NM_001323277.2:c.1118T>C, NM_001323277.1:c.1118T>C, NM_001323280.2:c.1058T>C, NM_001323280.1:c.1058T>C, NP_659437.3:p.Ile373Thr, XP_006714515.1:p.Ile398Thr, XP_006714516.1:p.Ile378Thr, XP_006714518.1:p.Ile353Thr, NP_001154901.1:p.Ile398Thr, NP_001310204.1:p.Ile378Thr, NP_001310207.1:p.Ile353Thr, NP_001310208.1:p.Ile349Thr, NP_001310202.1:p.Ile373Thr, NP_001310203.1:p.Ile398Thr, NP_001310205.1:p.Ile378Thr, NP_001310206.1:p.Ile373Thr, NP_001310209.1:p.Ile353Thr

                            14.

                            rs1461967752 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              5:36257478 (GRCh38)
                              5:36257580 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:36257477:A:T
                              Gene:
                              RANBP3L (Varview), LOC124900962 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.36257478A>T, NC_000005.9:g.36257580A>T, NM_145000.5:c.748T>A, NM_145000.4:c.748T>A, NM_145000.3:c.748T>A, XM_006714452.5:c.823T>A, XM_006714452.4:c.823T>A, XM_006714452.3:c.823T>A, XM_006714452.2:c.823T>A, XM_006714452.1:c.823T>A, XM_006714453.5:c.763T>A, XM_006714453.4:c.763T>A, XM_006714453.3:c.763T>A, XM_006714453.2:c.763T>A, XM_006714453.1:c.763T>A, XM_006714455.5:c.688T>A, XM_006714455.4:c.688T>A, XM_006714455.3:c.688T>A, XM_006714455.2:c.688T>A, XM_006714455.1:c.688T>A, NM_001161429.3:c.823T>A, NM_001161429.2:c.823T>A, NM_001161429.1:c.823T>A, NM_001323275.2:c.763T>A, NM_001323275.1:c.763T>A, NM_001323278.2:c.688T>A, NM_001323278.1:c.688T>A, NM_001323279.2:c.676T>A, NM_001323279.1:c.676T>A, NM_001323273.2:c.748T>A, NM_001323273.1:c.748T>A, NM_001323274.2:c.823T>A, NM_001323274.1:c.823T>A, NM_001323276.2:c.763T>A, NM_001323276.1:c.763T>A, NM_001323277.2:c.748T>A, NM_001323277.1:c.748T>A, NM_001323280.2:c.688T>A, NM_001323280.1:c.688T>A, NP_659437.3:p.Phe250Ile, XP_006714515.1:p.Phe275Ile, XP_006714516.1:p.Phe255Ile, XP_006714518.1:p.Phe230Ile, NP_001154901.1:p.Phe275Ile, NP_001310204.1:p.Phe255Ile, NP_001310207.1:p.Phe230Ile, NP_001310208.1:p.Phe226Ile, NP_001310202.1:p.Phe250Ile, NP_001310203.1:p.Phe275Ile, NP_001310205.1:p.Phe255Ile, NP_001310206.1:p.Phe250Ile, NP_001310209.1:p.Phe230Ile

                              15.

                              rs1460705263 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:36265034 (GRCh38)
                                5:36265136 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:36265033:A:G
                                Gene:
                                RANBP3L (Varview), LOC124900962 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.36265034A>G, NC_000005.9:g.36265136A>G, NM_145000.5:c.405T>C, NM_145000.4:c.405T>C, NM_145000.3:c.405T>C, XM_006714452.5:c.480T>C, XM_006714452.4:c.480T>C, XM_006714452.3:c.480T>C, XM_006714452.2:c.480T>C, XM_006714452.1:c.480T>C, XM_006714453.5:c.420T>C, XM_006714453.4:c.420T>C, XM_006714453.3:c.420T>C, XM_006714453.2:c.420T>C, XM_006714453.1:c.420T>C, XM_006714455.5:c.345T>C, XM_006714455.4:c.345T>C, XM_006714455.3:c.345T>C, XM_006714455.2:c.345T>C, XM_006714455.1:c.345T>C, NM_001161429.3:c.480T>C, NM_001161429.2:c.480T>C, NM_001161429.1:c.480T>C, NM_001323275.2:c.420T>C, NM_001323275.1:c.420T>C, NM_001323278.2:c.345T>C, NM_001323278.1:c.345T>C, NM_001323279.2:c.333T>C, NM_001323279.1:c.333T>C, NM_001323273.2:c.405T>C, NM_001323273.1:c.405T>C, NM_001323274.2:c.480T>C, NM_001323274.1:c.480T>C, NM_001323276.2:c.420T>C, NM_001323276.1:c.420T>C, NM_001323277.2:c.405T>C, NM_001323277.1:c.405T>C, NM_001323280.2:c.345T>C, NM_001323280.1:c.345T>C

                                16.

                                rs1460306623 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:36257041 (GRCh38)
                                  5:36257143 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:36257040:A:G
                                  Gene:
                                  RANBP3L (Varview), LOC124900962 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.36257041A>G, NC_000005.9:g.36257143A>G, NM_145000.5:c.803T>C, NM_145000.4:c.803T>C, NM_145000.3:c.803T>C, XM_006714452.5:c.878T>C, XM_006714452.4:c.878T>C, XM_006714452.3:c.878T>C, XM_006714452.2:c.878T>C, XM_006714452.1:c.878T>C, XM_006714453.5:c.818T>C, XM_006714453.4:c.818T>C, XM_006714453.3:c.818T>C, XM_006714453.2:c.818T>C, XM_006714453.1:c.818T>C, XM_006714455.5:c.743T>C, XM_006714455.4:c.743T>C, XM_006714455.3:c.743T>C, XM_006714455.2:c.743T>C, XM_006714455.1:c.743T>C, NM_001161429.3:c.878T>C, NM_001161429.2:c.878T>C, NM_001161429.1:c.878T>C, NM_001323275.2:c.818T>C, NM_001323275.1:c.818T>C, NM_001323278.2:c.743T>C, NM_001323278.1:c.743T>C, NM_001323279.2:c.731T>C, NM_001323279.1:c.731T>C, NM_001323273.2:c.803T>C, NM_001323273.1:c.803T>C, NM_001323274.2:c.878T>C, NM_001323274.1:c.878T>C, NM_001323276.2:c.818T>C, NM_001323276.1:c.818T>C, NM_001323277.2:c.803T>C, NM_001323277.1:c.803T>C, NM_001323280.2:c.743T>C, NM_001323280.1:c.743T>C, NP_659437.3:p.Ile268Thr, XP_006714515.1:p.Ile293Thr, XP_006714516.1:p.Ile273Thr, XP_006714518.1:p.Ile248Thr, NP_001154901.1:p.Ile293Thr, NP_001310204.1:p.Ile273Thr, NP_001310207.1:p.Ile248Thr, NP_001310208.1:p.Ile244Thr, NP_001310202.1:p.Ile268Thr, NP_001310203.1:p.Ile293Thr, NP_001310205.1:p.Ile273Thr, NP_001310206.1:p.Ile268Thr, NP_001310209.1:p.Ile248Thr

                                  17.

                                  rs1454072772 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    5:36253703 (GRCh38)
                                    5:36253805 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:36253702:C:
                                    Gene:
                                    RANBP3L (Varview), LOC124900962 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000005.10:g.36253703del, NC_000005.9:g.36253805del, NM_145000.5:c.1111del, NM_145000.4:c.1111del, NM_145000.3:c.1111del, XM_006714452.5:c.1186del, XM_006714452.4:c.1186del, XM_006714452.3:c.1186del, XM_006714452.2:c.1186del, XM_006714452.1:c.1186del, XM_006714453.5:c.1126del, XM_006714453.4:c.1126del, XM_006714453.3:c.1126del, XM_006714453.2:c.1126del, XM_006714453.1:c.1126del, XM_006714455.5:c.1051del, XM_006714455.4:c.1051del, XM_006714455.3:c.1051del, XM_006714455.2:c.1051del, XM_006714455.1:c.1051del, NM_001161429.3:c.1186del, NM_001161429.2:c.1186del, NM_001161429.1:c.1186del, NM_001323275.2:c.1126del, NM_001323275.1:c.1126del, NM_001323278.2:c.1051del, NM_001323278.1:c.1051del, NM_001323279.2:c.1039del, NM_001323279.1:c.1039del, NM_001323273.2:c.1111del, NM_001323273.1:c.1111del, NM_001323274.2:c.1186del, NM_001323274.1:c.1186del, NM_001323276.2:c.1126del, NM_001323276.1:c.1126del, NM_001323277.2:c.1111del, NM_001323277.1:c.1111del, NM_001323280.2:c.1051del, NM_001323280.1:c.1051del, NP_659437.3:p.Val371fs, XP_006714515.1:p.Val396fs, XP_006714516.1:p.Val376fs, XP_006714518.1:p.Val351fs, NP_001154901.1:p.Val396fs, NP_001310204.1:p.Val376fs, NP_001310207.1:p.Val351fs, NP_001310208.1:p.Val347fs, NP_001310202.1:p.Val371fs, NP_001310203.1:p.Val396fs, NP_001310205.1:p.Val376fs, NP_001310206.1:p.Val371fs, NP_001310209.1:p.Val351fs

                                    18.

                                    rs1453591632 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:36257052 (GRCh38)
                                      5:36257154 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:36257051:A:G
                                      Gene:
                                      RANBP3L (Varview), LOC124900962 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.36257052A>G, NC_000005.9:g.36257154A>G, NM_145000.5:c.792T>C, NM_145000.4:c.792T>C, NM_145000.3:c.792T>C, XM_006714452.5:c.867T>C, XM_006714452.4:c.867T>C, XM_006714452.3:c.867T>C, XM_006714452.2:c.867T>C, XM_006714452.1:c.867T>C, XM_006714453.5:c.807T>C, XM_006714453.4:c.807T>C, XM_006714453.3:c.807T>C, XM_006714453.2:c.807T>C, XM_006714453.1:c.807T>C, XM_006714455.5:c.732T>C, XM_006714455.4:c.732T>C, XM_006714455.3:c.732T>C, XM_006714455.2:c.732T>C, XM_006714455.1:c.732T>C, NM_001161429.3:c.867T>C, NM_001161429.2:c.867T>C, NM_001161429.1:c.867T>C, NM_001323275.2:c.807T>C, NM_001323275.1:c.807T>C, NM_001323278.2:c.732T>C, NM_001323278.1:c.732T>C, NM_001323279.2:c.720T>C, NM_001323279.1:c.720T>C, NM_001323273.2:c.792T>C, NM_001323273.1:c.792T>C, NM_001323274.2:c.867T>C, NM_001323274.1:c.867T>C, NM_001323276.2:c.807T>C, NM_001323276.1:c.807T>C, NM_001323277.2:c.792T>C, NM_001323277.1:c.792T>C, NM_001323280.2:c.732T>C, NM_001323280.1:c.732T>C

                                      19.

                                      rs1453500646 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        5:36265024 (GRCh38)
                                        5:36265126 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:36265023:C:A
                                        Gene:
                                        RANBP3L (Varview), LOC124900962 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.36265024C>A, NC_000005.9:g.36265126C>A, NM_145000.5:c.415G>T, NM_145000.4:c.415G>T, NM_145000.3:c.415G>T, XM_006714452.5:c.490G>T, XM_006714452.4:c.490G>T, XM_006714452.3:c.490G>T, XM_006714452.2:c.490G>T, XM_006714452.1:c.490G>T, XM_006714453.5:c.430G>T, XM_006714453.4:c.430G>T, XM_006714453.3:c.430G>T, XM_006714453.2:c.430G>T, XM_006714453.1:c.430G>T, XM_006714455.5:c.355G>T, XM_006714455.4:c.355G>T, XM_006714455.3:c.355G>T, XM_006714455.2:c.355G>T, XM_006714455.1:c.355G>T, NM_001161429.3:c.490G>T, NM_001161429.2:c.490G>T, NM_001161429.1:c.490G>T, NM_001323275.2:c.430G>T, NM_001323275.1:c.430G>T, NM_001323278.2:c.355G>T, NM_001323278.1:c.355G>T, NM_001323279.2:c.343G>T, NM_001323279.1:c.343G>T, NM_001323273.2:c.415G>T, NM_001323273.1:c.415G>T, NM_001323274.2:c.490G>T, NM_001323274.1:c.490G>T, NM_001323276.2:c.430G>T, NM_001323276.1:c.430G>T, NM_001323277.2:c.415G>T, NM_001323277.1:c.415G>T, NM_001323280.2:c.355G>T, NM_001323280.1:c.355G>T, NP_659437.3:p.Val139Leu, XP_006714515.1:p.Val164Leu, XP_006714516.1:p.Val144Leu, XP_006714518.1:p.Val119Leu, NP_001154901.1:p.Val164Leu, NP_001310204.1:p.Val144Leu, NP_001310207.1:p.Val119Leu, NP_001310208.1:p.Val115Leu, NP_001310202.1:p.Val139Leu, NP_001310203.1:p.Val164Leu, NP_001310205.1:p.Val144Leu, NP_001310206.1:p.Val139Leu, NP_001310209.1:p.Val119Leu

                                        20.

                                        rs1453487781 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          5:36265464 (GRCh38)
                                          5:36265566 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:36265463:T:G
                                          Gene:
                                          RANBP3L (Varview), LOC124900962 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.36265464T>G, NC_000005.9:g.36265566T>G, NM_145000.5:c.325A>C, NM_145000.4:c.325A>C, NM_145000.3:c.325A>C, XM_006714452.5:c.400A>C, XM_006714452.4:c.400A>C, XM_006714452.3:c.400A>C, XM_006714452.2:c.400A>C, XM_006714452.1:c.400A>C, XM_006714453.5:c.340A>C, XM_006714453.4:c.340A>C, XM_006714453.3:c.340A>C, XM_006714453.2:c.340A>C, XM_006714453.1:c.340A>C, XM_006714455.5:c.265A>C, XM_006714455.4:c.265A>C, XM_006714455.3:c.265A>C, XM_006714455.2:c.265A>C, XM_006714455.1:c.265A>C, NM_001161429.3:c.400A>C, NM_001161429.2:c.400A>C, NM_001161429.1:c.400A>C, NM_001323275.2:c.340A>C, NM_001323275.1:c.340A>C, NM_001323278.2:c.265A>C, NM_001323278.1:c.265A>C, NM_001323273.2:c.325A>C, NM_001323273.1:c.325A>C, NM_001323274.2:c.400A>C, NM_001323274.1:c.400A>C, NM_001323276.2:c.340A>C, NM_001323276.1:c.340A>C, NM_001323277.2:c.325A>C, NM_001323277.1:c.325A>C, NM_001323280.2:c.265A>C, NM_001323280.1:c.265A>C, NP_659437.3:p.Lys109Gln, XP_006714515.1:p.Lys134Gln, XP_006714516.1:p.Lys114Gln, XP_006714518.1:p.Lys89Gln, NP_001154901.1:p.Lys134Gln, NP_001310204.1:p.Lys114Gln, NP_001310207.1:p.Lys89Gln, NP_001310202.1:p.Lys109Gln, NP_001310203.1:p.Lys134Gln, NP_001310205.1:p.Lys114Gln, NP_001310206.1:p.Lys109Gln, NP_001310209.1:p.Lys89Gln

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