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Items: 1 to 20 of 1256

10.

rs1486195544 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    9:135779408 (GRCh38)
    9:138671254 (GRCh37)
    Canonical SPDI:
    NC_000009.12:135779407:A:C,NC_000009.12:135779407:A:G,NC_000009.12:135779407:A:T
    Gene:
    KCNT1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    C=0.00092/15 (TOMMO)
    HGVS:
    NC_000009.12:g.135779408A>C, NC_000009.12:g.135779408A>G, NC_000009.12:g.135779408A>T, NC_000009.11:g.138671254A>C, NC_000009.11:g.138671254A>G, NC_000009.11:g.138671254A>T, NG_033070.1:g.82224A>C, NG_033070.1:g.82224A>G, NG_033070.1:g.82224A>T, NM_020822.3:c.2779A>C, NM_020822.3:c.2779A>G, NM_020822.3:c.2779A>T, NM_020822.2:c.2779A>C, NM_020822.2:c.2779A>G, NM_020822.2:c.2779A>T, NM_001272003.2:c.2644A>C, NM_001272003.2:c.2644A>G, NM_001272003.2:c.2644A>T, NM_001272003.1:c.2644A>C, NM_001272003.1:c.2644A>G, NM_001272003.1:c.2644A>T, XM_011518881.4:c.2269A>C, XM_011518881.4:c.2269A>G, XM_011518881.4:c.2269A>T, XM_011518881.3:c.2269A>C, XM_011518881.3:c.2269A>G, XM_011518881.3:c.2269A>T, XM_011518881.2:c.2269A>C, XM_011518881.2:c.2269A>G, XM_011518881.2:c.2269A>T, XM_011518881.1:c.2269A>C, XM_011518881.1:c.2269A>G, XM_011518881.1:c.2269A>T, XM_011518878.4:c.2923A>C, XM_011518878.4:c.2923A>G, XM_011518878.4:c.2923A>T, XM_011518878.3:c.2923A>C, XM_011518878.3:c.2923A>G, XM_011518878.3:c.2923A>T, XM_011518878.2:c.2923A>C, XM_011518878.2:c.2923A>G, XM_011518878.2:c.2923A>T, XM_011518878.1:c.2923A>C, XM_011518878.1:c.2923A>G, XM_011518878.1:c.2923A>T, XM_011518879.4:c.2914A>C, XM_011518879.4:c.2914A>G, XM_011518879.4:c.2914A>T, XM_011518879.3:c.2914A>C, XM_011518879.3:c.2914A>G, XM_011518879.3:c.2914A>T, XM_011518879.2:c.2914A>C, XM_011518879.2:c.2914A>G, XM_011518879.2:c.2914A>T, XM_011518879.1:c.2914A>C, XM_011518879.1:c.2914A>G, XM_011518879.1:c.2914A>T, XM_024447617.2:c.2269A>C, XM_024447617.2:c.2269A>G, XM_024447617.2:c.2269A>T, XM_024447617.1:c.2269A>C, XM_024447617.1:c.2269A>G, XM_024447617.1:c.2269A>T, XM_017014931.2:c.2713A>C, XM_017014931.2:c.2713A>G, XM_017014931.2:c.2713A>T, XM_017014931.1:c.2713A>C, XM_017014931.1:c.2713A>G, XM_017014931.1:c.2713A>T, XM_011518880.2:c.2680A>C, XM_011518880.2:c.2680A>G, XM_011518880.2:c.2680A>T, XM_011518880.1:c.2680A>C, XM_011518880.1:c.2680A>G, XM_011518880.1:c.2680A>T, XM_017014932.2:c.2536A>C, XM_017014932.2:c.2536A>G, XM_017014932.2:c.2536A>T, XM_017014932.1:c.2536A>C, XM_017014932.1:c.2536A>G, XM_017014932.1:c.2536A>T, XM_024447618.2:c.2269A>C, XM_024447618.2:c.2269A>G, XM_024447618.2:c.2269A>T, XM_024447618.1:c.2269A>C, XM_024447618.1:c.2269A>G, XM_024447618.1:c.2269A>T, XM_017014933.2:c.2269A>C, XM_017014933.2:c.2269A>G, XM_017014933.2:c.2269A>T, XM_017014933.1:c.2269A>C, XM_017014933.1:c.2269A>G, XM_017014933.1:c.2269A>T, NP_065873.2:p.Met927Leu, NP_065873.2:p.Met927Val, NP_065873.2:p.Met927Leu, NP_001258932.1:p.Met882Leu, NP_001258932.1:p.Met882Val, NP_001258932.1:p.Met882Leu, XP_011517183.1:p.Met757Leu, XP_011517183.1:p.Met757Val, XP_011517183.1:p.Met757Leu, XP_011517180.1:p.Met975Leu, XP_011517180.1:p.Met975Val, XP_011517180.1:p.Met975Leu, XP_011517181.1:p.Met972Leu, XP_011517181.1:p.Met972Val, XP_011517181.1:p.Met972Leu, XP_024303385.1:p.Met757Leu, XP_024303385.1:p.Met757Val, XP_024303385.1:p.Met757Leu, XP_016870420.1:p.Met905Leu, XP_016870420.1:p.Met905Val, XP_016870420.1:p.Met905Leu, XP_011517182.1:p.Met894Leu, XP_011517182.1:p.Met894Val, XP_011517182.1:p.Met894Leu, XP_016870421.1:p.Met846Leu, XP_016870421.1:p.Met846Val, XP_016870421.1:p.Met846Leu, XP_024303386.1:p.Met757Leu, XP_024303386.1:p.Met757Val, XP_024303386.1:p.Met757Leu, XP_016870422.1:p.Met757Leu, XP_016870422.1:p.Met757Val, XP_016870422.1:p.Met757Leu
    13.

    rs1479237463 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      9:135770305 (GRCh38)
      9:138662151 (GRCh37)
      Canonical SPDI:
      NC_000009.12:135770304:C:A,NC_000009.12:135770304:C:T
      Gene:
      KCNT1 (Varview)
      Functional Consequence:
      coding_sequence_variant,stop_gained,missense_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.135770305C>A, NC_000009.12:g.135770305C>T, NC_000009.11:g.138662151C>A, NC_000009.11:g.138662151C>T, NG_033070.1:g.73121C>A, NG_033070.1:g.73121C>T, NM_020822.3:c.1627C>A, NM_020822.3:c.1627C>T, NM_020822.2:c.1627C>A, NM_020822.2:c.1627C>T, NM_001272003.2:c.1492C>A, NM_001272003.2:c.1492C>T, NM_001272003.1:c.1492C>A, NM_001272003.1:c.1492C>T, XM_011518881.4:c.1117C>A, XM_011518881.4:c.1117C>T, XM_011518881.3:c.1117C>A, XM_011518881.3:c.1117C>T, XM_011518881.2:c.1117C>A, XM_011518881.2:c.1117C>T, XM_011518881.1:c.1117C>A, XM_011518881.1:c.1117C>T, XM_011518878.4:c.1771C>A, XM_011518878.4:c.1771C>T, XM_011518878.3:c.1771C>A, XM_011518878.3:c.1771C>T, XM_011518878.2:c.1771C>A, XM_011518878.2:c.1771C>T, XM_011518878.1:c.1771C>A, XM_011518878.1:c.1771C>T, XM_011518879.4:c.1762C>A, XM_011518879.4:c.1762C>T, XM_011518879.3:c.1762C>A, XM_011518879.3:c.1762C>T, XM_011518879.2:c.1762C>A, XM_011518879.2:c.1762C>T, XM_011518879.1:c.1762C>A, XM_011518879.1:c.1762C>T, XM_024447617.2:c.1117C>A, XM_024447617.2:c.1117C>T, XM_024447617.1:c.1117C>A, XM_024447617.1:c.1117C>T, XM_017014931.2:c.1561C>A, XM_017014931.2:c.1561C>T, XM_017014931.1:c.1561C>A, XM_017014931.1:c.1561C>T, XM_011518880.2:c.1528C>A, XM_011518880.2:c.1528C>T, XM_011518880.1:c.1528C>A, XM_011518880.1:c.1528C>T, XM_017014932.2:c.1384C>A, XM_017014932.2:c.1384C>T, XM_017014932.1:c.1384C>A, XM_017014932.1:c.1384C>T, XM_024447618.2:c.1117C>A, XM_024447618.2:c.1117C>T, XM_024447618.1:c.1117C>A, XM_024447618.1:c.1117C>T, XM_017014933.2:c.1117C>A, XM_017014933.2:c.1117C>T, XM_017014933.1:c.1117C>A, XM_017014933.1:c.1117C>T, NP_065873.2:p.Gln543Lys, NP_065873.2:p.Gln543Ter, NP_001258932.1:p.Gln498Lys, NP_001258932.1:p.Gln498Ter, XP_011517183.1:p.Gln373Lys, XP_011517183.1:p.Gln373Ter, XP_011517180.1:p.Gln591Lys, XP_011517180.1:p.Gln591Ter, XP_011517181.1:p.Gln588Lys, XP_011517181.1:p.Gln588Ter, XP_024303385.1:p.Gln373Lys, XP_024303385.1:p.Gln373Ter, XP_016870420.1:p.Gln521Lys, XP_016870420.1:p.Gln521Ter, XP_011517182.1:p.Gln510Lys, XP_011517182.1:p.Gln510Ter, XP_016870421.1:p.Gln462Lys, XP_016870421.1:p.Gln462Ter, XP_024303386.1:p.Gln373Lys, XP_024303386.1:p.Gln373Ter, XP_016870422.1:p.Gln373Lys, XP_016870422.1:p.Gln373Ter
      17.

      rs1476079719 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:135777488 (GRCh38)
        9:138669334 (GRCh37)
        Canonical SPDI:
        NC_000009.12:135777487:A:G
        Gene:
        KCNT1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000047/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.135777488A>G, NC_000009.11:g.138669334A>G, NG_033070.1:g.80304A>G, NM_020822.3:c.2500A>G, NM_020822.2:c.2500A>G, NM_001272003.2:c.2365A>G, NM_001272003.1:c.2365A>G, XM_011518881.4:c.1990A>G, XM_011518881.3:c.1990A>G, XM_011518881.2:c.1990A>G, XM_011518881.1:c.1990A>G, XM_011518878.4:c.2644A>G, XM_011518878.3:c.2644A>G, XM_011518878.2:c.2644A>G, XM_011518878.1:c.2644A>G, XM_011518879.4:c.2635A>G, XM_011518879.3:c.2635A>G, XM_011518879.2:c.2635A>G, XM_011518879.1:c.2635A>G, XM_024447617.2:c.1990A>G, XM_024447617.1:c.1990A>G, XM_017014931.2:c.2434A>G, XM_017014931.1:c.2434A>G, XM_011518880.2:c.2401A>G, XM_011518880.1:c.2401A>G, XM_017014932.2:c.2257A>G, XM_017014932.1:c.2257A>G, XM_024447618.2:c.1990A>G, XM_024447618.1:c.1990A>G, XM_017014933.2:c.1990A>G, XM_017014933.1:c.1990A>G, NP_065873.2:p.Ile834Val, NP_001258932.1:p.Ile789Val, XP_011517183.1:p.Ile664Val, XP_011517180.1:p.Ile882Val, XP_011517181.1:p.Ile879Val, XP_024303385.1:p.Ile664Val, XP_016870420.1:p.Ile812Val, XP_011517182.1:p.Ile801Val, XP_016870421.1:p.Ile753Val, XP_024303386.1:p.Ile664Val, XP_016870422.1:p.Ile664Val
        20.

        rs1474998881 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:135777408 (GRCh38)
          9:138669254 (GRCh37)
          Canonical SPDI:
          NC_000009.12:135777407:C:G,NC_000009.12:135777407:C:T
          Gene:
          KCNT1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.0003/1 (KOREAN)
          HGVS:
          NC_000009.12:g.135777408C>G, NC_000009.12:g.135777408C>T, NC_000009.11:g.138669254C>G, NC_000009.11:g.138669254C>T, NG_033070.1:g.80224C>G, NG_033070.1:g.80224C>T, NM_020822.3:c.2420C>G, NM_020822.3:c.2420C>T, NM_020822.2:c.2420C>G, NM_020822.2:c.2420C>T, NM_001272003.2:c.2285C>G, NM_001272003.2:c.2285C>T, NM_001272003.1:c.2285C>G, NM_001272003.1:c.2285C>T, XM_011518881.4:c.1910C>G, XM_011518881.4:c.1910C>T, XM_011518881.3:c.1910C>G, XM_011518881.3:c.1910C>T, XM_011518881.2:c.1910C>G, XM_011518881.2:c.1910C>T, XM_011518881.1:c.1910C>G, XM_011518881.1:c.1910C>T, XM_011518878.4:c.2564C>G, XM_011518878.4:c.2564C>T, XM_011518878.3:c.2564C>G, XM_011518878.3:c.2564C>T, XM_011518878.2:c.2564C>G, XM_011518878.2:c.2564C>T, XM_011518878.1:c.2564C>G, XM_011518878.1:c.2564C>T, XM_011518879.4:c.2555C>G, XM_011518879.4:c.2555C>T, XM_011518879.3:c.2555C>G, XM_011518879.3:c.2555C>T, XM_011518879.2:c.2555C>G, XM_011518879.2:c.2555C>T, XM_011518879.1:c.2555C>G, XM_011518879.1:c.2555C>T, XM_024447617.2:c.1910C>G, XM_024447617.2:c.1910C>T, XM_024447617.1:c.1910C>G, XM_024447617.1:c.1910C>T, XM_017014931.2:c.2354C>G, XM_017014931.2:c.2354C>T, XM_017014931.1:c.2354C>G, XM_017014931.1:c.2354C>T, XM_011518880.2:c.2321C>G, XM_011518880.2:c.2321C>T, XM_011518880.1:c.2321C>G, XM_011518880.1:c.2321C>T, XM_017014932.2:c.2177C>G, XM_017014932.2:c.2177C>T, XM_017014932.1:c.2177C>G, XM_017014932.1:c.2177C>T, XM_024447618.2:c.1910C>G, XM_024447618.2:c.1910C>T, XM_024447618.1:c.1910C>G, XM_024447618.1:c.1910C>T, XM_017014933.2:c.1910C>G, XM_017014933.2:c.1910C>T, XM_017014933.1:c.1910C>G, XM_017014933.1:c.1910C>T, NP_065873.2:p.Ala807Gly, NP_065873.2:p.Ala807Val, NP_001258932.1:p.Ala762Gly, NP_001258932.1:p.Ala762Val, XP_011517183.1:p.Ala637Gly, XP_011517183.1:p.Ala637Val, XP_011517180.1:p.Ala855Gly, XP_011517180.1:p.Ala855Val, XP_011517181.1:p.Ala852Gly, XP_011517181.1:p.Ala852Val, XP_024303385.1:p.Ala637Gly, XP_024303385.1:p.Ala637Val, XP_016870420.1:p.Ala785Gly, XP_016870420.1:p.Ala785Val, XP_011517182.1:p.Ala774Gly, XP_011517182.1:p.Ala774Val, XP_016870421.1:p.Ala726Gly, XP_016870421.1:p.Ala726Val, XP_024303386.1:p.Ala637Gly, XP_024303386.1:p.Ala637Val, XP_016870422.1:p.Ala637Gly, XP_016870422.1:p.Ala637Val

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