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Items: 1 to 20 of 603

3.

rs1489802906 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    16:68539799 (GRCh38)
    16:68573702 (GRCh37)
    Canonical SPDI:
    NC_000016.10:68539798:C:G,NC_000016.10:68539798:C:T
    Gene:
    ZFP90 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000051/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.68539799C>G, NC_000016.10:g.68539799C>T, NC_000016.9:g.68573702C>G, NC_000016.9:g.68573702C>T, NM_133458.4:c.7C>G, NM_133458.4:c.7C>T, NM_133458.3:c.7C>G, NM_133458.3:c.7C>T, NM_133458.2:c.7C>G, NM_133458.2:c.7C>T, XM_005255804.3:c.7C>G, XM_005255804.3:c.7C>T, XM_005255804.2:c.7C>G, XM_005255804.2:c.7C>T, XM_005255804.1:c.7C>G, XM_005255804.1:c.7C>T, NR_130978.2:n.239C>G, NR_130978.2:n.239C>T, NR_130978.1:n.317C>G, NR_130978.1:n.317C>T, NR_130976.2:n.231C>G, NR_130976.2:n.231C>T, NR_130976.1:n.309C>G, NR_130976.1:n.309C>T, NM_001305206.2:c.7C>G, NM_001305206.2:c.7C>T, NM_001305206.1:c.7C>G, NM_001305206.1:c.7C>T, NM_001305207.2:c.7C>G, NM_001305207.2:c.7C>T, NM_001305207.1:c.7C>G, NM_001305207.1:c.7C>T, NR_130977.2:n.181C>G, NR_130977.2:n.181C>T, NR_130977.1:n.259C>G, NR_130977.1:n.259C>T, NM_001305208.2:c.7C>G, NM_001305208.2:c.7C>T, NM_001305208.1:c.7C>G, NM_001305208.1:c.7C>T, NM_001305203.2:c.7C>G, NM_001305203.2:c.7C>T, NM_001305203.1:c.7C>G, NM_001305203.1:c.7C>T, XM_024450159.2:c.7C>G, XM_024450159.2:c.7C>T, XM_024450159.1:c.7C>G, XM_024450159.1:c.7C>T, NM_001305204.2:c.7C>G, NM_001305204.2:c.7C>T, NM_001305204.1:c.7C>G, NM_001305204.1:c.7C>T, XM_047433642.1:c.7C>G, XM_047433642.1:c.7C>T, XM_047433643.1:c.7C>G, XM_047433643.1:c.7C>T, XM_047433640.1:c.7C>G, XM_047433640.1:c.7C>T, XM_047433641.1:c.7C>G, XM_047433641.1:c.7C>T, XM_047433639.1:c.7C>G, XM_047433639.1:c.7C>T, NP_597715.2:p.Pro3Ala, NP_597715.2:p.Pro3Ser, XP_005255861.1:p.Pro3Ala, XP_005255861.1:p.Pro3Ser, NP_001292135.1:p.Pro3Ala, NP_001292135.1:p.Pro3Ser, NP_001292136.1:p.Pro3Ala, NP_001292136.1:p.Pro3Ser, NP_001292137.1:p.Pro3Ala, NP_001292137.1:p.Pro3Ser, NP_001292132.1:p.Pro3Ala, NP_001292132.1:p.Pro3Ser, XP_024305927.1:p.Pro3Ala, XP_024305927.1:p.Pro3Ser, NP_001292133.1:p.Pro3Ala, NP_001292133.1:p.Pro3Ser, XP_047289598.1:p.Pro3Ala, XP_047289598.1:p.Pro3Ser, XP_047289599.1:p.Pro3Ala, XP_047289599.1:p.Pro3Ser, XP_047289596.1:p.Pro3Ala, XP_047289596.1:p.Pro3Ser, XP_047289597.1:p.Pro3Ala, XP_047289597.1:p.Pro3Ser, XP_047289595.1:p.Pro3Ala, XP_047289595.1:p.Pro3Ser
    6.

    rs1484192897 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:68558122 (GRCh38)
      16:68592025 (GRCh37)
      Canonical SPDI:
      NC_000016.10:68558121:T:C
      Gene:
      ZFP90 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000016.10:g.68558122T>C, NC_000016.9:g.68592025T>C, NM_133458.4:c.158T>C, NM_133458.3:c.158T>C, NM_133458.2:c.158T>C, XM_017022952.3:c.410T>C, XM_017022952.2:c.410T>C, XM_017022952.1:c.410T>C, XM_005255804.3:c.158T>C, XM_005255804.2:c.158T>C, XM_005255804.1:c.158T>C, NR_130978.2:n.390T>C, NR_130978.1:n.468T>C, NR_130976.2:n.382T>C, NR_130976.1:n.460T>C, NM_001305206.2:c.158T>C, NM_001305206.1:c.158T>C, NM_001305207.2:c.158T>C, NM_001305207.1:c.158T>C, NR_130977.2:n.332T>C, NR_130977.1:n.410T>C, NM_001305208.2:c.158T>C, NM_001305208.1:c.158T>C, NM_001305203.2:c.158T>C, NM_001305203.1:c.158T>C, XM_024450159.2:c.158T>C, XM_024450159.1:c.158T>C, NM_001305204.2:c.158T>C, NM_001305204.1:c.158T>C, XM_047433642.1:c.158T>C, XM_047433643.1:c.158T>C, XM_047433640.1:c.158T>C, XM_047433641.1:c.158T>C, XM_047433639.1:c.158T>C, NP_597715.2:p.Leu53Pro, XP_016878441.1:p.Leu137Pro, XP_005255861.1:p.Leu53Pro, NP_001292135.1:p.Leu53Pro, NP_001292136.1:p.Leu53Pro, NP_001292137.1:p.Leu53Pro, NP_001292132.1:p.Leu53Pro, XP_024305927.1:p.Leu53Pro, NP_001292133.1:p.Leu53Pro, XP_047289598.1:p.Leu53Pro, XP_047289599.1:p.Leu53Pro, XP_047289596.1:p.Leu53Pro, XP_047289597.1:p.Leu53Pro, XP_047289595.1:p.Leu53Pro
      10.

      rs1482038492 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        16:68563864 (GRCh38)
        16:68597767 (GRCh37)
        Canonical SPDI:
        NC_000016.10:68563863:A:C,NC_000016.10:68563863:A:G
        Gene:
        ZFP90 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000016.10:g.68563864A>C, NC_000016.10:g.68563864A>G, NC_000016.9:g.68597767A>C, NC_000016.9:g.68597767A>G, NM_133458.4:c.1077A>C, NM_133458.4:c.1077A>G, NM_133458.3:c.1077A>C, NM_133458.3:c.1077A>G, NM_133458.2:c.1077A>C, NM_133458.2:c.1077A>G, XM_017022952.3:c.1329A>C, XM_017022952.3:c.1329A>G, XM_017022952.2:c.1329A>C, XM_017022952.2:c.1329A>G, XM_017022952.1:c.1329A>C, XM_017022952.1:c.1329A>G, XM_005255804.3:c.1077A>C, XM_005255804.3:c.1077A>G, XM_005255804.2:c.1077A>C, XM_005255804.2:c.1077A>G, XM_005255804.1:c.1077A>C, XM_005255804.1:c.1077A>G, NR_130978.2:n.1407A>C, NR_130978.2:n.1407A>G, NR_130978.1:n.1485A>C, NR_130978.1:n.1485A>G, NR_130976.2:n.1399A>C, NR_130976.2:n.1399A>G, NR_130976.1:n.1477A>C, NR_130976.1:n.1477A>G, NM_001305206.2:c.*850A>C, NM_001305206.2:c.*850A>G, NM_001305206.1:c.*850A>C, NM_001305206.1:c.*850A>G, NM_001305207.2:c.*850A>C, NM_001305207.2:c.*850A>G, NM_001305207.1:c.*850A>C, NM_001305207.1:c.*850A>G, NR_130977.2:n.1349A>C, NR_130977.2:n.1349A>G, NR_130977.1:n.1427A>C, NR_130977.1:n.1427A>G, NM_001305208.2:c.*850A>C, NM_001305208.2:c.*850A>G, NM_001305208.1:c.*850A>C, NM_001305208.1:c.*850A>G, NM_001305203.2:c.1077A>C, NM_001305203.2:c.1077A>G, NM_001305203.1:c.1077A>C, NM_001305203.1:c.1077A>G, XM_024450159.2:c.1077A>C, XM_024450159.2:c.1077A>G, XM_024450159.1:c.1077A>C, XM_024450159.1:c.1077A>G, XM_047433642.1:c.*850A>C, XM_047433642.1:c.*850A>G, XM_047433643.1:c.*850A>C, XM_047433643.1:c.*850A>G
        16.

        rs1473913674 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          16:68564138 (GRCh38)
          16:68598041 (GRCh37)
          Canonical SPDI:
          NC_000016.10:68564137:C:A,NC_000016.10:68564137:C:T
          Gene:
          ZFP90 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000016.10:g.68564138C>A, NC_000016.10:g.68564138C>T, NC_000016.9:g.68598041C>A, NC_000016.9:g.68598041C>T, NM_133458.4:c.1351C>A, NM_133458.4:c.1351C>T, NM_133458.3:c.1351C>A, NM_133458.3:c.1351C>T, NM_133458.2:c.1351C>A, NM_133458.2:c.1351C>T, XM_017022952.3:c.1603C>A, XM_017022952.3:c.1603C>T, XM_017022952.2:c.1603C>A, XM_017022952.2:c.1603C>T, XM_017022952.1:c.1603C>A, XM_017022952.1:c.1603C>T, XM_005255804.3:c.1351C>A, XM_005255804.3:c.1351C>T, XM_005255804.2:c.1351C>A, XM_005255804.2:c.1351C>T, XM_005255804.1:c.1351C>A, XM_005255804.1:c.1351C>T, NR_130978.2:n.1681C>A, NR_130978.2:n.1681C>T, NR_130978.1:n.1759C>A, NR_130978.1:n.1759C>T, NR_130976.2:n.1673C>A, NR_130976.2:n.1673C>T, NR_130976.1:n.1751C>A, NR_130976.1:n.1751C>T, NM_001305206.2:c.*1124C>A, NM_001305206.2:c.*1124C>T, NM_001305206.1:c.*1124C>A, NM_001305206.1:c.*1124C>T, NM_001305207.2:c.*1124C>A, NM_001305207.2:c.*1124C>T, NM_001305207.1:c.*1124C>A, NM_001305207.1:c.*1124C>T, NR_130977.2:n.1623C>A, NR_130977.2:n.1623C>T, NR_130977.1:n.1701C>A, NR_130977.1:n.1701C>T, NM_001305208.2:c.*1124C>A, NM_001305208.2:c.*1124C>T, NM_001305208.1:c.*1124C>A, NM_001305208.1:c.*1124C>T, NM_001305203.2:c.1351C>A, NM_001305203.2:c.1351C>T, NM_001305203.1:c.1351C>A, NM_001305203.1:c.1351C>T, XM_024450159.2:c.1351C>A, XM_024450159.2:c.1351C>T, XM_024450159.1:c.1351C>A, XM_024450159.1:c.1351C>T, XM_047433642.1:c.*1124C>A, XM_047433642.1:c.*1124C>T, XM_047433643.1:c.*1124C>A, XM_047433643.1:c.*1124C>T, NP_597715.2:p.His451Asn, NP_597715.2:p.His451Tyr, XP_016878441.1:p.His535Asn, XP_016878441.1:p.His535Tyr, XP_005255861.1:p.His451Asn, XP_005255861.1:p.His451Tyr, NP_001292132.1:p.His451Asn, NP_001292132.1:p.His451Tyr, XP_024305927.1:p.His451Asn, XP_024305927.1:p.His451Tyr
          19.

          rs1473321676 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            16:68563885 (GRCh38)
            16:68597788 (GRCh37)
            Canonical SPDI:
            NC_000016.10:68563884:C:A,NC_000016.10:68563884:C:T
            Gene:
            ZFP90 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000051/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.68563885C>A, NC_000016.10:g.68563885C>T, NC_000016.9:g.68597788C>A, NC_000016.9:g.68597788C>T, NM_133458.4:c.1098C>A, NM_133458.4:c.1098C>T, NM_133458.3:c.1098C>A, NM_133458.3:c.1098C>T, NM_133458.2:c.1098C>A, NM_133458.2:c.1098C>T, XM_017022952.3:c.1350C>A, XM_017022952.3:c.1350C>T, XM_017022952.2:c.1350C>A, XM_017022952.2:c.1350C>T, XM_017022952.1:c.1350C>A, XM_017022952.1:c.1350C>T, XM_005255804.3:c.1098C>A, XM_005255804.3:c.1098C>T, XM_005255804.2:c.1098C>A, XM_005255804.2:c.1098C>T, XM_005255804.1:c.1098C>A, XM_005255804.1:c.1098C>T, NR_130978.2:n.1428C>A, NR_130978.2:n.1428C>T, NR_130978.1:n.1506C>A, NR_130978.1:n.1506C>T, NR_130976.2:n.1420C>A, NR_130976.2:n.1420C>T, NR_130976.1:n.1498C>A, NR_130976.1:n.1498C>T, NM_001305206.2:c.*871C>A, NM_001305206.2:c.*871C>T, NM_001305206.1:c.*871C>A, NM_001305206.1:c.*871C>T, NM_001305207.2:c.*871C>A, NM_001305207.2:c.*871C>T, NM_001305207.1:c.*871C>A, NM_001305207.1:c.*871C>T, NR_130977.2:n.1370C>A, NR_130977.2:n.1370C>T, NR_130977.1:n.1448C>A, NR_130977.1:n.1448C>T, NM_001305208.2:c.*871C>A, NM_001305208.2:c.*871C>T, NM_001305208.1:c.*871C>A, NM_001305208.1:c.*871C>T, NM_001305203.2:c.1098C>A, NM_001305203.2:c.1098C>T, NM_001305203.1:c.1098C>A, NM_001305203.1:c.1098C>T, XM_024450159.2:c.1098C>A, XM_024450159.2:c.1098C>T, XM_024450159.1:c.1098C>A, XM_024450159.1:c.1098C>T, XM_047433642.1:c.*871C>A, XM_047433642.1:c.*871C>T, XM_047433643.1:c.*871C>A, XM_047433643.1:c.*871C>T, NP_597715.2:p.Phe366Leu, XP_016878441.1:p.Phe450Leu, XP_005255861.1:p.Phe366Leu, NP_001292132.1:p.Phe366Leu, XP_024305927.1:p.Phe366Leu

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