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Links from Protein

Items: 1 to 20 of 846

1.

rs1490633050 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:101664669 (GRCh38)
    3:101383513 (GRCh37)
    Canonical SPDI:
    NC_000003.12:101664668:T:C
    Gene:
    ZBTB11 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000224/1 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000223/1 (Estonian)
    HGVS:
    2.

    rs1490589700 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:101672067 (GRCh38)
      3:101390911 (GRCh37)
      Canonical SPDI:
      NC_000003.12:101672066:C:G
      Gene:
      ZBTB11 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.
      4.

      rs1485321037 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:101665088 (GRCh38)
        3:101383932 (GRCh37)
        Canonical SPDI:
        NC_000003.12:101665087:T:C
        Gene:
        ZBTB11 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        5.

        rs1484763904 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          3:101671996 (GRCh38)
          3:101390840 (GRCh37)
          Canonical SPDI:
          NC_000003.12:101671995:G:C
          Gene:
          ZBTB11 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          6.

          rs1482714878 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            3:101652566 (GRCh38)
            3:101371410 (GRCh37)
            Canonical SPDI:
            NC_000003.12:101652565:C:A,NC_000003.12:101652565:C:T
            Gene:
            ZBTB11 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            8.

            rs1482167704 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:101665002 (GRCh38)
              3:101383846 (GRCh37)
              Canonical SPDI:
              NC_000003.12:101665001:G:T
              Gene:
              ZBTB11 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              9.

              rs1481523350 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                3:101651625 (GRCh38)
                3:101370469 (GRCh37)
                Canonical SPDI:
                NC_000003.12:101651624:T:G
                Gene:
                ZBTB11 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                G=0.000142/2 (TOMMO)
                HGVS:
                11.

                rs1480823284 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  3:101672005 (GRCh38)
                  3:101390850 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:101672005:TT:TTT
                  Gene:
                  ZBTB11 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                  HGVS:
                  12.

                  rs1476331699 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:101675813 (GRCh38)
                    3:101394657 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:101675812:A:G
                    Gene:
                    ZBTB11 (Varview), ZBTB11-AS1 (Varview), LOC124906262 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    13.

                    rs1475883771 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:101652559 (GRCh38)
                      3:101371403 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:101652558:C:T
                      Gene:
                      ZBTB11 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      14.

                      rs1475765451 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:101659792 (GRCh38)
                        3:101378636 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:101659791:A:G
                        Gene:
                        ZBTB11 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000047/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        15.

                        rs1475749536 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:101672119 (GRCh38)
                          3:101390963 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:101672118:C:A
                          Gene:
                          ZBTB11 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          17.

                          rs1473816581 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:101665024 (GRCh38)
                            3:101383868 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:101665023:G:A
                            Gene:
                            ZBTB11 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            18.

                            rs1471703598 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              3:101656185 (GRCh38)
                              3:101375030 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:101656185:T:TT
                              Gene:
                              ZBTB11 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              19.

                              rs1471089539 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CCT>- [Show Flanks]
                                Chromosome:
                                3:101651176 (GRCh38)
                                3:101370020 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:101651170:CTCCTCCT:CTCCT
                                Gene:
                                ZBTB11 (Varview)
                                Functional Consequence:
                                inframe_deletion,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTCCT=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                20.

                                rs1465688694 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:101654815 (GRCh38)
                                  3:101373659 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:101654814:G:A
                                  Gene:
                                  ZBTB11 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:

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