U.S. flag

An official website of the United States government

Links from Protein

Items: 1 to 20 of 126

1.

rs1486631172 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:138218284 (GRCh38)
    6:138539421 (GRCh37)
    Canonical SPDI:
    NC_000006.12:138218283:T:C
    Gene:
    ARFGEF3 (Varview), PBOV1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1465828112 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:138218305 (GRCh38)
      6:138539442 (GRCh37)
      Canonical SPDI:
      NC_000006.12:138218304:T:C
      Gene:
      ARFGEF3 (Varview), PBOV1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000005/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1464329390 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        6:138218168 (GRCh38)
        6:138539305 (GRCh37)
        Canonical SPDI:
        NC_000006.12:138218167:T:A
        Gene:
        ARFGEF3 (Varview), PBOV1 (Varview)
        Functional Consequence:
        synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1459982736 has merged into rs1266656630 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATTTCATTGAGGAAC>-,ATTTCATTGAGGAACATTTCATTGAGGAAC [Show Flanks]
          Chromosome:
          6:138218107 (GRCh38)
          6:138539244 (GRCh37)
          Canonical SPDI:
          NC_000006.12:138218098:TGAGGAACATTTCATTGAGGAAC:TGAGGAAC,NC_000006.12:138218098:TGAGGAACATTTCATTGAGGAAC:TGAGGAACATTTCATTGAGGAACATTTCATTGAGGAAC
          Gene:
          ARFGEF3 (Varview), PBOV1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,inframe_deletion,inframe_insertion,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGAGGAACATTTCATTGAGGAACATTTCATTGAGGAAC=0./0 (ALFA)
          TGAGGAACATTTCAT=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1455493621 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            6:138218247 (GRCh38)
            6:138539384 (GRCh37)
            Canonical SPDI:
            NC_000006.12:138218246:T:A
            Gene:
            ARFGEF3 (Varview), PBOV1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            ...more
            HGVS:
            6.

            rs1453909134 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:138218233 (GRCh38)
              6:138539370 (GRCh37)
              Canonical SPDI:
              NC_000006.12:138218232:T:C
              Gene:
              ARFGEF3 (Varview), PBOV1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1448622631 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                6:138218121 (GRCh38)
                6:138539258 (GRCh37)
                Canonical SPDI:
                NC_000006.12:138218120:CC:C
                Gene:
                ARFGEF3 (Varview), PBOV1 (Varview)
                Functional Consequence:
                frameshift_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CC=0./0 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                -=0.000008/2 (TOPMED)
                -=0.000156/1 (1000Genomes)
                ...more
                HGVS:
                8.

                rs1433025788 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  6:138218380 (GRCh38)
                  6:138539517 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:138218379:T:C,NC_000006.12:138218379:T:G
                  Gene:
                  ARFGEF3 (Varview), PBOV1 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.000007/1 (GnomAD_exomes)
                  ...more
                  HGVS:
                  9.

                  rs1429304219 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TAACTGCAAAGT [Show Flanks]
                    Chromosome:
                    6:138218053 (GRCh38)
                    6:138539191 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:138218053:AGTTAACTGCAAAGT:AGTTAACTGCAAAGTTAACTGCAAAGT
                    Gene:
                    ARFGEF3 (Varview), PBOV1 (Varview)
                    Functional Consequence:
                    inframe_insertion,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    AGTTAACTGCAA=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1427810103 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:138218378 (GRCh38)
                      6:138539515 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:138218377:C:G
                      Gene:
                      ARFGEF3 (Varview), PBOV1 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1404424228 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:138218304 (GRCh38)
                        6:138539441 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:138218303:T:C
                        Gene:
                        ARFGEF3 (Varview), PBOV1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000005/1 (GnomAD_exomes)
                        ...more
                        HGVS:
                        12.

                        rs1393881462 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:138218246 (GRCh38)
                          6:138539383 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:138218245:G:A
                          Gene:
                          ARFGEF3 (Varview), PBOV1 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1386325898 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            6:138218135 (GRCh38)
                            6:138539272 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:138218134:G:C
                            Gene:
                            ARFGEF3 (Varview), PBOV1 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (GnomAD_exomes)
                            C=0.000008/2 (TOPMED)
                            ...more
                            HGVS:
                            14.

                            rs1378748618 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              6:138218250 (GRCh38)
                              6:138539387 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:138218249:C:A
                              Gene:
                              ARFGEF3 (Varview), PBOV1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1349825250 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:138218330 (GRCh38)
                                6:138539467 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:138218329:G:A
                                Gene:
                                ARFGEF3 (Varview), PBOV1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                HGVS:
                                16.

                                rs1347971742 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  6:138218004 (GRCh38)
                                  6:138539141 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:138218003:T:G
                                  Gene:
                                  ARFGEF3 (Varview), PBOV1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1340552503 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    6:138218015 (GRCh38)
                                    6:138539152 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:138218014:G:T
                                    Gene:
                                    ARFGEF3 (Varview), PBOV1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.00005/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1331174134 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:138217990 (GRCh38)
                                      6:138539127 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:138217989:A:G
                                      Gene:
                                      ARFGEF3 (Varview), PBOV1 (Varview)
                                      Functional Consequence:
                                      intron_variant,stop_lost,terminator_codon_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000142/2 (ALFA)
                                      G=0.000008/2 (GnomAD_exomes)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000023/6 (TOPMED)
                                      ...more
                                      HGVS:
                                      19.

                                      rs1316706885 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        6:138218143 (GRCh38)
                                        6:138539280 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:138218142:G:T
                                        Gene:
                                        ARFGEF3 (Varview), PBOV1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1311651738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:138218039 (GRCh38)
                                          6:138539176 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:138218038:C:T
                                          Gene:
                                          ARFGEF3 (Varview), PBOV1 (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000015/2 (GnomAD)
                                          ...more
                                          HGVS:

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...
                                          External link. Please review our privacy policy.