ANK1
ankyrin 1
Summary
Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
Known Variants891 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12550613 | 8:41,510,260 | G/A | — | — |
| rs951243751 | 8:41,510,900 | G/A | — | uncertain significance |
| rs886062929 | 8:41,510,967 | G/C | — | uncertain significance |
| rs545505994 | 8:41,511,028 | G/A | — | uncertain significance |
| rs2150523867 | 8:41,511,037 | G/C | — | uncertain significance |
| rs886062930 | 8:41,511,137 | G/T | — | uncertain significance |
| rs543817 | 8:41,511,157 | A/C | — | benign |
| rs560472367 | 8:41,511,186 | C/A | — | uncertain significance |
| rs112447985 | 8:41,511,287 | C/T | — | likely benign |
| rs886062931 | 8:41,511,357 | C/T | — | uncertain significance |
| rs72638943 | 8:41,511,410 | C/T | — | likely benign |
| rs116365681 | 8:41,511,417 | C/A | — | uncertain significance |
| rs1476190517 | 8:41,511,425 | C/T | — | uncertain significance |
| rs1238270293 | 8:41,511,429 | G/T | — | uncertain significance |
| rs372070501 | 8:41,511,451 | T/G | — | uncertain significance |
| rs1462339318 | 8:41,511,501 | T/C | — | uncertain significance |
| rs182454354 | 8:41,511,601 | C/G | — | conflicting classifications of pathogenicity |
| rs3802314 | 8:41,511,642 | A/T | — | likely benign |
| rs78203311 | 8:41,511,700 | G/C | — | likely benign |
| rs746821020 | 8:41,511,706 | G/C | — | uncertain significance |
| rs572470025 | 8:41,511,719 | C/T | — | uncertain significance |
| rs1805004224 | 8:41,511,835 | G/A | — | uncertain significance |
| rs1312631766 | 8:41,511,885 | G/A | — | uncertain significance |
| rs987022893 | 8:41,511,897 | C/T | — | uncertain significance |
| rs116137861 | 8:41,511,907 | C/A | — | conflicting classifications of pathogenicity |
| rs1805075039 | 8:41,512,059 | T/C | — | uncertain significance |
| rs886062932 | 8:41,512,067 | C/A | — | uncertain significance |
| rs977041324 | 8:41,512,189 | A/G | — | uncertain significance |
| rs886062933 | 8:41,512,235 | T/C | — | uncertain significance |
| rs886062934 | 8:41,512,247 | A/C | — | uncertain significance |
| rs867723923 | 8:41,512,278 | C/T | — | uncertain significance |
| rs559077429 | 8:41,512,317 | A/G | — | conflicting classifications of pathogenicity |
| rs1160580288 | 8:41,512,443 | G/C | — | uncertain significance |
| rs138767348 | 8:41,512,452 | G/T | — | conflicting classifications of pathogenicity |
| rs1805185515 | 8:41,512,487 | C/T | — | uncertain significance |
| rs115248068 | 8:41,512,488 | G/A | — | conflicting classifications of pathogenicity |
| rs191346232 | 8:41,512,514 | T/C | — | uncertain significance |
| rs142696529 | 8:41,512,535 | T/C | — | conflicting classifications of pathogenicity |
| rs546029986 | 8:41,512,608 | G/A | — | uncertain significance |
| rs547095997 | 8:41,512,644 | G/A | — | uncertain significance |
| rs886062936 | 8:41,512,658 | T/G | — | uncertain significance |
| rs1475025499 | 8:41,512,872 | T/G | — | uncertain significance |
| rs980889226 | 8:41,512,892 | C/G | — | uncertain significance |
| rs1361354647 | 8:41,512,898 | G/C | — | uncertain significance |
| rs550204540 | 8:41,512,914 | A/T | — | conflicting classifications of pathogenicity |
| rs1343502294 | 8:41,512,924 | C/A | — | uncertain significance |
| rs1805325198 | 8:41,512,931 | A/C | — | uncertain significance |
| rs1042068456 | 8:41,512,937 | A/G | — | uncertain significance |
| rs72638944 | 8:41,513,071 | A/G | — | likely benign |
| rs575900279 | 8:41,513,192 | C/T | — | uncertain significance |
| rs767748017 | 8:41,513,245 | T/C | — | uncertain significance |
| rs752874877 | 8:41,513,261 | C/T | — | uncertain significance |
| rs79227184 | 8:41,513,453 | C/T | — | benign |
| rs17659386 | 8:41,513,531 | T/C | — | benign |
| rs72638945 | 8:41,513,539 | T/C | — | benign |
| rs17659428 | 8:41,513,809 | T/C | upstream gene variant | — |
| rs12544241 | 8:41,514,888 | G/A | upstream gene variant | — |
| rs716199 | 8:41,515,531 | A/G | upstream gene variant | — |
| rs10504042 | 8:41,515,993 | G/A | upstream gene variant | — |
| rs77023555 | 8:41,518,715 | C/T | — | benign |
| rs3736217 | 8:41,518,872 | G/C | — | benign |
| rs1301645470 | 8:41,518,947 | C/T | — | uncertain significance |
| rs117166178 | 8:41,518,952 | C/T | — | uncertain significance |
| rs371773460 | 8:41,518,953 | G/A | — | uncertain significance |
| rs568372288 | 8:41,518,974 | C/T | — | likely benign |
| rs146341756 | 8:41,518,976 | G/T | — | conflicting classifications of pathogenicity |
| rs201561226 | 8:41,518,980 | G/A | — | uncertain significance |
| rs778450388 | 8:41,518,994 | C/T | — | uncertain significance |
| rs1357631173 | 8:41,518,995 | C/T | — | uncertain significance |
| rs184665931 | 8:41,518,999 | T/C | — | uncertain significance |
| rs139762174 | 8:41,519,012 | C/T | — | conflicting classifications of pathogenicity |
| rs145235970 | 8:41,519,013 | G/A | — | conflicting classifications of pathogenicity |
| rs748263198 | 8:41,519,021 | A/C | — | uncertain significance |
| rs770130197 | 8:41,519,024 | T/C | — | uncertain significance |
| rs150975400 | 8:41,519,026 | C/T | — | conflicting classifications of pathogenicity |
| rs767580738 | 8:41,519,027 | G/A | — | conflicting classifications of pathogenicity |
| rs775251229 | 8:41,519,029 | C/T | — | likely benign |
| rs139528300 | 8:41,519,053 | C/T | — | likely benign |
| rs753652757 | 8:41,519,054 | G/A | — | uncertain significance |
| rs375010708 | 8:41,519,091 | A/G | — | likely benign |
| rs761575621 | 8:41,519,154 | A/C | — | uncertain significance |
| rs516946 | 8:41,519,248 | T/C | downstream gene variant | benign |
| rs72638959 | 8:41,519,303 | G/A | — | conflicting classifications of pathogenicity |
| rs199880684 | 8:41,519,315 | G/A | — | likely benign |
| rs770509350 | 8:41,519,335 | A/T | — | likely benign |
| rs114905632 | 8:41,519,348 | C/T | — | conflicting classifications of pathogenicity |
| rs1808371268 | 8:41,519,379 | C/A | — | likely benign |
| rs200067567 | 8:41,519,400 | G/C | — | uncertain significance |
| rs2487538167 | 8:41,519,408 | G/A | — | pathogenic |
| rs148504610 | 8:41,519,412 | G/A | — | likely benign |
| rs116148295 | 8:41,519,418 | G/A | — | conflicting classifications of pathogenicity |
| rs1218976308 | 8:41,519,438 | G/A | — | likely pathogenic |
| rs137852831 | 8:41,519,441 | G/A | stop gained | pathogenic |
| rs370175565 | 8:41,519,452 | C/T | — | uncertain significance |
| rs751690725 | 8:41,519,453 | G/A | — | uncertain significance |
| rs515071 | 8:41,519,462 | A/G | splice region variant | benign |
| rs142836307 | 8:41,519,476 | A/G | — | benign |
| rs750253055 | 8:41,521,190 | A/T | — | uncertain significance |
| rs528332130 | 8:41,521,197 | C/T | — | uncertain significance |
| rs146637140 | 8:41,521,207 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 891 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.