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Items: 1 to 20 of 960

1.

rs1490490578 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:88557774 (GRCh38)
    2:88857292 (GRCh37)
    Canonical SPDI:
    NC_000002.12:88557773:G:A
    Gene:
    EIF2AK3 (Varview), LOC101928371 (Varview)
    Functional Consequence:
    stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1489098296 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:88627084 (GRCh38)
      2:88926602 (GRCh37)
      Canonical SPDI:
      NC_000002.12:88627083:G:A
      Gene:
      EIF2AK3 (Varview), EIF2AK3-DT (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1488731167 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:88574677 (GRCh38)
        2:88874195 (GRCh37)
        Canonical SPDI:
        NC_000002.12:88574676:T:C
        Gene:
        EIF2AK3 (Varview), LOC101928371 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1488218683 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:88575108 (GRCh38)
          2:88874626 (GRCh37)
          Canonical SPDI:
          NC_000002.12:88575107:G:A
          Gene:
          EIF2AK3 (Varview), LOC101928371 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000031/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1487226765 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            2:88585942 (GRCh38)
            2:88885460 (GRCh37)
            Canonical SPDI:
            NC_000002.12:88585941:G:T
            Gene:
            EIF2AK3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1486401299 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:88627253 (GRCh38)
              2:88926771 (GRCh37)
              Canonical SPDI:
              NC_000002.12:88627252:C:T
              Gene:
              EIF2AK3 (Varview), EIF2AK3-DT (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486279252 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:88585958 (GRCh38)
                2:88885476 (GRCh37)
                Canonical SPDI:
                NC_000002.12:88585957:G:A
                Gene:
                EIF2AK3 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1486242692 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:88588779 (GRCh38)
                  2:88888297 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:88588778:T:C
                  Gene:
                  EIF2AK3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1485843012 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    2:88588852 (GRCh38)
                    2:88888370 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:88588851:T:G
                    Gene:
                    EIF2AK3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1485204178 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      2:88590509 (GRCh38)
                      2:88890027 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:88590508:C:G
                      Gene:
                      EIF2AK3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1483244464 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:88595486 (GRCh38)
                        2:88895004 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:88595485:T:G
                        Gene:
                        EIF2AK3 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1480894325 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:88590503 (GRCh38)
                          2:88890021 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:88590502:C:T
                          Gene:
                          EIF2AK3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1478560005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            2:88627173 (GRCh38)
                            2:88926691 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:88627172:A:C,NC_000002.12:88627172:A:G
                            Gene:
                            EIF2AK3 (Varview), EIF2AK3-DT (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            C=0.000565/1 (Korea1K)
                            HGVS:
                            14.

                            rs1478508112 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              2:88627030 (GRCh38)
                              2:88926548 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:88627029:G:A,NC_000002.12:88627029:G:C,NC_000002.12:88627029:G:T
                              Gene:
                              EIF2AK3 (Varview), EIF2AK3-DT (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,intron_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1478151670 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:88562292 (GRCh38)
                                2:88861810 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:88562291:G:C
                                Gene:
                                EIF2AK3 (Varview), LOC101928371 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1477836874 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:88574675 (GRCh38)
                                  2:88874193 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:88574674:C:T
                                  Gene:
                                  EIF2AK3 (Varview), LOC101928371 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1477421865 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TA>- [Show Flanks]
                                    Chromosome:
                                    2:88557737 (GRCh38)
                                    2:88857255 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:88557736:TA:
                                    Gene:
                                    EIF2AK3 (Varview), LOC101928371 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,genic_downstream_transcript_variant,stop_lost,terminator_codon_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1474386390 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      2:88576659 (GRCh38)
                                      2:88876177 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:88576658:G:T
                                      Gene:
                                      EIF2AK3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1474123036 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:88574984 (GRCh38)
                                        2:88874502 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:88574983:A:C
                                        Gene:
                                        EIF2AK3 (Varview), LOC101928371 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1473338839 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:88590909 (GRCh38)
                                          2:88890427 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:88590908:G:A
                                          Gene:
                                          EIF2AK3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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