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Items: 1 to 20 of 562

2.

rs1488953042 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:18394828 (GRCh38)
    3:18436320 (GRCh37)
    Canonical SPDI:
    NC_000003.12:18394827:C:G
    Gene:
    SATB1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000003.12:g.18394828C>G, NC_000003.11:g.18436320C>G, NG_027814.2:g.55761G>C, NM_002971.6:c.840G>C, NM_002971.5:c.840G>C, NM_002971.4:c.840G>C, NM_001131010.4:c.840G>C, NM_001131010.3:c.840G>C, NM_001131010.2:c.840G>C, NM_001195470.3:c.840G>C, NM_001195470.2:c.840G>C, NM_001195470.1:c.840G>C, NM_001322871.2:c.840G>C, NM_001322871.1:c.840G>C, NM_001322873.2:c.840G>C, NM_001322873.1:c.840G>C, NM_001322872.2:c.840G>C, NM_001322872.1:c.840G>C, NM_001322874.2:c.840G>C, NM_001322874.1:c.840G>C, NM_001322875.2:c.840G>C, NM_001322875.1:c.840G>C, NM_001322876.2:c.624G>C, NM_001322876.1:c.624G>C, XM_011533990.4:c.840G>C, XM_011533990.3:c.840G>C, XM_011533990.2:c.840G>C, XM_011533990.1:c.840G>C, XM_011533988.4:c.840G>C, XM_011533988.3:c.840G>C, XM_011533988.2:c.840G>C, XM_011533988.1:c.840G>C, XM_011533989.3:c.840G>C, XM_011533989.2:c.840G>C, XM_011533989.1:c.840G>C, XM_047448683.1:c.840G>C, NP_002962.1:p.Glu280Asp, NP_001124482.1:p.Glu280Asp, NP_001182399.1:p.Glu280Asp, NP_001309800.1:p.Glu280Asp, NP_001309802.1:p.Glu280Asp, NP_001309801.1:p.Glu280Asp, NP_001309803.1:p.Glu280Asp, NP_001309804.1:p.Glu280Asp, NP_001309805.1:p.Glu208Asp, XP_011532292.1:p.Glu280Asp, XP_011532290.1:p.Glu280Asp, XP_011532291.1:p.Glu280Asp, XP_047304639.1:p.Glu280Asp
    3.

    rs1486103633 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:18417076 (GRCh38)
      3:18458568 (GRCh37)
      Canonical SPDI:
      NC_000003.12:18417075:T:C
      Gene:
      SATB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000023/6 (TOPMED)
      HGVS:
      NC_000003.12:g.18417076T>C, NC_000003.11:g.18458568T>C, NG_027814.2:g.33513A>G, NM_002971.6:c.214A>G, NM_002971.5:c.214A>G, NM_002971.4:c.214A>G, NM_001131010.4:c.214A>G, NM_001131010.3:c.214A>G, NM_001131010.2:c.214A>G, NM_001195470.3:c.214A>G, NM_001195470.2:c.214A>G, NM_001195470.1:c.214A>G, NM_001322871.2:c.214A>G, NM_001322871.1:c.214A>G, NM_001322873.2:c.214A>G, NM_001322873.1:c.214A>G, NM_001322872.2:c.214A>G, NM_001322872.1:c.214A>G, NM_001322874.2:c.214A>G, NM_001322874.1:c.214A>G, NM_001322875.2:c.214A>G, NM_001322875.1:c.214A>G, NM_001322876.2:c.-3A>G, NM_001322876.1:c.-3A>G, XM_011533990.4:c.214A>G, XM_011533990.3:c.214A>G, XM_011533990.2:c.214A>G, XM_011533990.1:c.214A>G, XM_011533988.4:c.214A>G, XM_011533988.3:c.214A>G, XM_011533988.2:c.214A>G, XM_011533988.1:c.214A>G, XM_011533989.3:c.214A>G, XM_011533989.2:c.214A>G, XM_011533989.1:c.214A>G, XM_047448683.1:c.214A>G, NP_002962.1:p.Thr72Ala, NP_001124482.1:p.Thr72Ala, NP_001182399.1:p.Thr72Ala, NP_001309800.1:p.Thr72Ala, NP_001309802.1:p.Thr72Ala, NP_001309801.1:p.Thr72Ala, NP_001309803.1:p.Thr72Ala, NP_001309804.1:p.Thr72Ala, XP_011532292.1:p.Thr72Ala, XP_011532290.1:p.Thr72Ala, XP_011532291.1:p.Thr72Ala, XP_047304639.1:p.Thr72Ala
      4.

      rs1486067592 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        3:18351350 (GRCh38)
        3:18392842 (GRCh37)
        Canonical SPDI:
        NC_000003.12:18351349:A:T
        Gene:
        SATB1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_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:
        5.

        rs1485459368 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:18351361 (GRCh38)
          3:18392853 (GRCh37)
          Canonical SPDI:
          NC_000003.12:18351360:G:A
          Gene:
          SATB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
          HGVS:
          8.

          rs1483130348 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            3:18417072 (GRCh38)
            3:18458564 (GRCh37)
            Canonical SPDI:
            NC_000003.12:18417071:A:G,NC_000003.12:18417071:A:T
            Gene:
            SATB1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,initiator_codon_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000003.12:g.18417072A>G, NC_000003.12:g.18417072A>T, NC_000003.11:g.18458564A>G, NC_000003.11:g.18458564A>T, NG_027814.2:g.33517T>C, NG_027814.2:g.33517T>A, NM_002971.6:c.218T>C, NM_002971.6:c.218T>A, NM_002971.5:c.218T>C, NM_002971.5:c.218T>A, NM_002971.4:c.218T>C, NM_002971.4:c.218T>A, NM_001131010.4:c.218T>C, NM_001131010.4:c.218T>A, NM_001131010.3:c.218T>C, NM_001131010.3:c.218T>A, NM_001131010.2:c.218T>C, NM_001131010.2:c.218T>A, NM_001195470.3:c.218T>C, NM_001195470.3:c.218T>A, NM_001195470.2:c.218T>C, NM_001195470.2:c.218T>A, NM_001195470.1:c.218T>C, NM_001195470.1:c.218T>A, NM_001322871.2:c.218T>C, NM_001322871.2:c.218T>A, NM_001322871.1:c.218T>C, NM_001322871.1:c.218T>A, NM_001322873.2:c.218T>C, NM_001322873.2:c.218T>A, NM_001322873.1:c.218T>C, NM_001322873.1:c.218T>A, NM_001322872.2:c.218T>C, NM_001322872.2:c.218T>A, NM_001322872.1:c.218T>C, NM_001322872.1:c.218T>A, NM_001322874.2:c.218T>C, NM_001322874.2:c.218T>A, NM_001322874.1:c.218T>C, NM_001322874.1:c.218T>A, NM_001322875.2:c.218T>C, NM_001322875.2:c.218T>A, NM_001322875.1:c.218T>C, NM_001322875.1:c.218T>A, NM_001322876.2:c.2T>C, NM_001322876.2:c.2T>A, NM_001322876.1:c.2T>C, NM_001322876.1:c.2T>A, XM_011533990.4:c.218T>C, XM_011533990.4:c.218T>A, XM_011533990.3:c.218T>C, XM_011533990.3:c.218T>A, XM_011533990.2:c.218T>C, XM_011533990.2:c.218T>A, XM_011533990.1:c.218T>C, XM_011533990.1:c.218T>A, XM_011533988.4:c.218T>C, XM_011533988.4:c.218T>A, XM_011533988.3:c.218T>C, XM_011533988.3:c.218T>A, XM_011533988.2:c.218T>C, XM_011533988.2:c.218T>A, XM_011533988.1:c.218T>C, XM_011533988.1:c.218T>A, XM_011533989.3:c.218T>C, XM_011533989.3:c.218T>A, XM_011533989.2:c.218T>C, XM_011533989.2:c.218T>A, XM_011533989.1:c.218T>C, XM_011533989.1:c.218T>A, XM_047448683.1:c.218T>C, XM_047448683.1:c.218T>A, NP_002962.1:p.Met73Thr, NP_002962.1:p.Met73Lys, NP_001124482.1:p.Met73Thr, NP_001124482.1:p.Met73Lys, NP_001182399.1:p.Met73Thr, NP_001182399.1:p.Met73Lys, NP_001309800.1:p.Met73Thr, NP_001309800.1:p.Met73Lys, NP_001309802.1:p.Met73Thr, NP_001309802.1:p.Met73Lys, NP_001309801.1:p.Met73Thr, NP_001309801.1:p.Met73Lys, NP_001309803.1:p.Met73Thr, NP_001309803.1:p.Met73Lys, NP_001309804.1:p.Met73Thr, NP_001309804.1:p.Met73Lys, NP_001309805.1:p.Met1Thr, NP_001309805.1:p.Met1Lys, XP_011532292.1:p.Met73Thr, XP_011532292.1:p.Met73Lys, XP_011532290.1:p.Met73Thr, XP_011532290.1:p.Met73Lys, XP_011532291.1:p.Met73Thr, XP_011532291.1:p.Met73Lys, XP_047304639.1:p.Met73Thr, XP_047304639.1:p.Met73Lys
            9.
            10.

            rs1481660110 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              3:18349306 (GRCh38)
              3:18390798 (GRCh37)
              Canonical SPDI:
              NC_000003.12:18349305:T:A
              Gene:
              SATB1 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000028/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (GnomAD_exomes)
              A=0.000011/3 (TOPMED)
              HGVS:
              NC_000003.12:g.18349306T>A, NC_000003.11:g.18390798T>A, NG_027814.2:g.101283A>T, NM_002971.6:c.2156A>T, NM_002971.5:c.2156A>T, NM_002971.4:c.2156A>T, NM_001131010.4:c.2156A>T, NM_001131010.3:c.2156A>T, NM_001131010.2:c.2156A>T, NM_001195470.3:c.2252A>T, NM_001195470.2:c.2252A>T, NM_001195470.1:c.2252A>T, NM_001322871.2:c.2252A>T, NM_001322871.1:c.2252A>T, NM_001322873.2:c.2156A>T, NM_001322873.1:c.2156A>T, NM_001322872.2:c.2156A>T, NM_001322872.1:c.2156A>T, NM_001322874.2:c.2156A>T, NM_001322874.1:c.2156A>T, NM_001322875.2:c.2156A>T, NM_001322875.1:c.2156A>T, NM_001322876.2:c.1940A>T, NM_001322876.1:c.1940A>T, XM_011533988.4:c.2252A>T, XM_011533988.3:c.2252A>T, XM_011533988.2:c.2252A>T, XM_011533988.1:c.2252A>T, XM_011533989.3:c.2252A>T, XM_011533989.2:c.2252A>T, XM_011533989.1:c.2252A>T, NP_002962.1:p.Tyr719Phe, NP_001124482.1:p.Tyr719Phe, NP_001182399.1:p.Tyr751Phe, NP_001309800.1:p.Tyr751Phe, NP_001309802.1:p.Tyr719Phe, NP_001309801.1:p.Tyr719Phe, NP_001309803.1:p.Tyr719Phe, NP_001309804.1:p.Tyr719Phe, NP_001309805.1:p.Tyr647Phe, XP_011532290.1:p.Tyr751Phe, XP_011532291.1:p.Tyr751Phe
              11.

              rs1480623294 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:18386439 (GRCh38)
                3:18427931 (GRCh37)
                Canonical SPDI:
                NC_000003.12:18386438:G:A
                Gene:
                SATB1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.00002/5 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.18386439G>A, NC_000003.11:g.18427931G>A, NG_027814.2:g.64150C>T, NM_002971.6:c.1379C>T, NM_002971.5:c.1379C>T, NM_002971.4:c.1379C>T, NM_001131010.4:c.1379C>T, NM_001131010.3:c.1379C>T, NM_001131010.2:c.1379C>T, NM_001195470.3:c.1379C>T, NM_001195470.2:c.1379C>T, NM_001195470.1:c.1379C>T, NM_001322871.2:c.1379C>T, NM_001322871.1:c.1379C>T, NM_001322873.2:c.1379C>T, NM_001322873.1:c.1379C>T, NM_001322872.2:c.1379C>T, NM_001322872.1:c.1379C>T, NM_001322874.2:c.1379C>T, NM_001322874.1:c.1379C>T, NM_001322875.2:c.1379C>T, NM_001322875.1:c.1379C>T, NM_001322876.2:c.1163C>T, NM_001322876.1:c.1163C>T, XM_011533990.4:c.1379C>T, XM_011533990.3:c.1379C>T, XM_011533990.2:c.1379C>T, XM_011533990.1:c.1379C>T, XM_011533988.4:c.1379C>T, XM_011533988.3:c.1379C>T, XM_011533988.2:c.1379C>T, XM_011533988.1:c.1379C>T, XM_011533989.3:c.1379C>T, XM_011533989.2:c.1379C>T, XM_011533989.1:c.1379C>T, XM_047448683.1:c.1379C>T, NP_002962.1:p.Pro460Leu, NP_001124482.1:p.Pro460Leu, NP_001182399.1:p.Pro460Leu, NP_001309800.1:p.Pro460Leu, NP_001309802.1:p.Pro460Leu, NP_001309801.1:p.Pro460Leu, NP_001309803.1:p.Pro460Leu, NP_001309804.1:p.Pro460Leu, NP_001309805.1:p.Pro388Leu, XP_011532292.1:p.Pro460Leu, XP_011532290.1:p.Pro460Leu, XP_011532291.1:p.Pro460Leu, XP_047304639.1:p.Pro460Leu
                13.

                rs1479266221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  3:18394826 (GRCh38)
                  3:18436318 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:18394825:T:G
                  Gene:
                  SATB1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.18394826T>G, NC_000003.11:g.18436318T>G, NG_027814.2:g.55763A>C, NM_002971.6:c.842A>C, NM_002971.5:c.842A>C, NM_002971.4:c.842A>C, NM_001131010.4:c.842A>C, NM_001131010.3:c.842A>C, NM_001131010.2:c.842A>C, NM_001195470.3:c.842A>C, NM_001195470.2:c.842A>C, NM_001195470.1:c.842A>C, NM_001322871.2:c.842A>C, NM_001322871.1:c.842A>C, NM_001322873.2:c.842A>C, NM_001322873.1:c.842A>C, NM_001322872.2:c.842A>C, NM_001322872.1:c.842A>C, NM_001322874.2:c.842A>C, NM_001322874.1:c.842A>C, NM_001322875.2:c.842A>C, NM_001322875.1:c.842A>C, NM_001322876.2:c.626A>C, NM_001322876.1:c.626A>C, XM_011533990.4:c.842A>C, XM_011533990.3:c.842A>C, XM_011533990.2:c.842A>C, XM_011533990.1:c.842A>C, XM_011533988.4:c.842A>C, XM_011533988.3:c.842A>C, XM_011533988.2:c.842A>C, XM_011533988.1:c.842A>C, XM_011533989.3:c.842A>C, XM_011533989.2:c.842A>C, XM_011533989.1:c.842A>C, XM_047448683.1:c.842A>C, NP_002962.1:p.Gln281Pro, NP_001124482.1:p.Gln281Pro, NP_001182399.1:p.Gln281Pro, NP_001309800.1:p.Gln281Pro, NP_001309802.1:p.Gln281Pro, NP_001309801.1:p.Gln281Pro, NP_001309803.1:p.Gln281Pro, NP_001309804.1:p.Gln281Pro, NP_001309805.1:p.Gln209Pro, XP_011532292.1:p.Gln281Pro, XP_011532290.1:p.Gln281Pro, XP_011532291.1:p.Gln281Pro, XP_047304639.1:p.Gln281Pro
                  16.

                  rs1476359100 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:18416016 (GRCh38)
                    3:18457508 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:18416015:T:C
                    Gene:
                    SATB1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.18416016T>C, NC_000003.11:g.18457508T>C, NG_027814.2:g.34573A>G, NM_002971.6:c.506A>G, NM_002971.5:c.506A>G, NM_002971.4:c.506A>G, NM_001131010.4:c.506A>G, NM_001131010.3:c.506A>G, NM_001131010.2:c.506A>G, NM_001195470.3:c.506A>G, NM_001195470.2:c.506A>G, NM_001195470.1:c.506A>G, NM_001322871.2:c.506A>G, NM_001322871.1:c.506A>G, NM_001322873.2:c.506A>G, NM_001322873.1:c.506A>G, NM_001322872.2:c.506A>G, NM_001322872.1:c.506A>G, NM_001322874.2:c.506A>G, NM_001322874.1:c.506A>G, NM_001322875.2:c.506A>G, NM_001322875.1:c.506A>G, NM_001322876.2:c.290A>G, NM_001322876.1:c.290A>G, XM_011533990.4:c.506A>G, XM_011533990.3:c.506A>G, XM_011533990.2:c.506A>G, XM_011533990.1:c.506A>G, XM_011533988.4:c.506A>G, XM_011533988.3:c.506A>G, XM_011533988.2:c.506A>G, XM_011533988.1:c.506A>G, XM_011533989.3:c.506A>G, XM_011533989.2:c.506A>G, XM_011533989.1:c.506A>G, XM_047448683.1:c.506A>G, NP_002962.1:p.Gln169Arg, NP_001124482.1:p.Gln169Arg, NP_001182399.1:p.Gln169Arg, NP_001309800.1:p.Gln169Arg, NP_001309802.1:p.Gln169Arg, NP_001309801.1:p.Gln169Arg, NP_001309803.1:p.Gln169Arg, NP_001309804.1:p.Gln169Arg, NP_001309805.1:p.Gln97Arg, XP_011532292.1:p.Gln169Arg, XP_011532290.1:p.Gln169Arg, XP_011532291.1:p.Gln169Arg, XP_047304639.1:p.Gln169Arg
                    20.

                    rs1467462118 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:18420921 (GRCh38)
                      3:18462413 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:18420920:A:G
                      Gene:
                      SATB1 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000224/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000223/1 (Estonian)
                      HGVS:
                      NC_000003.12:g.18420921A>G, NC_000003.11:g.18462413A>G, NG_027814.2:g.29668T>C, NM_002971.6:c.47T>C, NM_002971.5:c.47T>C, NM_002971.4:c.47T>C, NM_001131010.4:c.47T>C, NM_001131010.3:c.47T>C, NM_001131010.2:c.47T>C, NM_001195470.3:c.47T>C, NM_001195470.2:c.47T>C, NM_001195470.1:c.47T>C, NM_001322871.2:c.47T>C, NM_001322871.1:c.47T>C, NM_001322873.2:c.47T>C, NM_001322873.1:c.47T>C, NM_001322872.2:c.47T>C, NM_001322872.1:c.47T>C, NM_001322874.2:c.47T>C, NM_001322874.1:c.47T>C, NM_001322875.2:c.47T>C, NM_001322875.1:c.47T>C, XM_011533990.4:c.47T>C, XM_011533990.3:c.47T>C, XM_011533990.2:c.47T>C, XM_011533990.1:c.47T>C, XM_011533988.4:c.47T>C, XM_011533988.3:c.47T>C, XM_011533988.2:c.47T>C, XM_011533988.1:c.47T>C, XM_011533989.3:c.47T>C, XM_011533989.2:c.47T>C, XM_011533989.1:c.47T>C, XM_047448683.1:c.47T>C, NP_002962.1:p.Met16Thr, NP_001124482.1:p.Met16Thr, NP_001182399.1:p.Met16Thr, NP_001309800.1:p.Met16Thr, NP_001309802.1:p.Met16Thr, NP_001309801.1:p.Met16Thr, NP_001309803.1:p.Met16Thr, NP_001309804.1:p.Met16Thr, XP_011532292.1:p.Met16Thr, XP_011532290.1:p.Met16Thr, XP_011532291.1:p.Met16Thr, XP_047304639.1:p.Met16Thr

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