ANXA6
annexin A6
Summary
Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11960458 | 5:150,480,520 | C/A | — | — |
| rs374777015 | 5:150,483,151 | A/G | — | uncertain significance |
| rs1012456943 | 5:150,483,181 | G/A | — | uncertain significance |
| rs1764610211 | 5:150,483,205 | T/C | — | uncertain significance |
| rs970759512 | 5:150,483,232 | T/C | — | uncertain significance |
| rs41290563 | 5:150,483,257 | G/C | — | benign |
| rs745379492 | 5:150,484,826 | T/G | — | uncertain significance |
| rs773731360 | 5:150,488,065 | G/A | — | likely benign |
| rs368344684 | 5:150,488,079 | C/T | — | uncertain significance |
| rs199644640 | 5:150,489,328 | G/A | — | uncertain significance |
| rs201769474 | 5:150,489,337 | C/T | — | uncertain significance |
| rs542124145 | 5:150,489,362 | G/A | — | uncertain significance |
| rs767215473 | 5:150,489,405 | T/G | — | uncertain significance |
| rs1581980221 | 5:150,490,197 | A/C | — | likely benign |
| rs757232045 | 5:150,496,702 | G/A | — | uncertain significance |
| rs369377233 | 5:150,496,726 | C/T | — | uncertain significance |
| rs372396908 | 5:150,496,734 | C/T | — | uncertain significance |
| rs200918889 | 5:150,496,735 | G/A | — | uncertain significance |
| rs1214196580 | 5:150,496,740 | C/T | — | uncertain significance |
| rs150654386 | 5:150,497,395 | T/C | — | likely benign |
| rs1479139328 | 5:150,498,869 | T/C | — | uncertain significance |
| rs756811700 | 5:150,498,885 | C/T | — | uncertain significance |
| rs200856940 | 5:150,498,888 | G/A | — | uncertain significance |
| rs2532187779 | 5:150,498,909 | T/A | — | uncertain significance |
| rs201681691 | 5:150,498,929 | G/A | — | uncertain significance |
| rs372417182 | 5:150,501,738 | G/A | — | likely benign |
| rs760463233 | 5:150,501,809 | C/T | — | uncertain significance |
| rs1328100003 | 5:150,501,820 | T/C | — | uncertain significance |
| rs201350840 | 5:150,502,492 | A/C | — | uncertain significance |
| rs199949353 | 5:150,502,519 | G/T | — | likely benign |
| rs1353844089 | 5:150,502,535 | G/C | — | uncertain significance |
| rs201960506 | 5:150,502,549 | C/T | — | uncertain significance |
| rs138779149 | 5:150,503,872 | C/T | — | likely benign |
| rs545945295 | 5:150,503,912 | C/T | — | uncertain significance |
| rs564132684 | 5:150,503,913 | G/A | — | uncertain significance |
| rs10037814 | 5:150,505,516 | T/A | — | — |
| rs202059733 | 5:150,505,996 | C/A | — | uncertain significance |
| rs565185923 | 5:150,506,012 | G/A | — | uncertain significance |
| rs777296760 | 5:150,506,020 | C/T | — | likely benign |
| rs62379666 | 5:150,507,809 | A/G | — | benign |
| rs374445008 | 5:150,509,006 | G/A | — | uncertain significance |
| rs771874570 | 5:150,509,078 | G/A | — | uncertain significance |
| rs776401657 | 5:150,510,799 | G/T | — | uncertain significance |
| rs199837151 | 5:150,512,040 | C/T | — | uncertain significance |
| rs769104982 | 5:150,512,132 | A/G | — | uncertain significance |
| rs939887951 | 5:150,512,660 | C/T | — | uncertain significance |
| rs559953264 | 5:150,512,714 | G/C | — | uncertain significance |
| rs9324677 | 5:150,513,738 | A/C | regulatory region variant | — |
| rs1447914600 | 5:150,515,833 | A/G | — | uncertain significance |
| rs2532222633 | 5:150,515,859 | G/T | — | uncertain significance |
| rs781123987 | 5:150,515,887 | C/T | — | uncertain significance |
| rs369946660 | 5:150,516,817 | G/C | — | uncertain significance |
| rs115013290 | 5:150,516,888 | G/A | — | likely benign |
| rs9324679 | 5:150,517,025 | C/G | intron variant | — |
| rs188111044 | 5:150,518,240 | G/A | — | uncertain significance |
| rs761642539 | 5:150,518,958 | G/C | — | uncertain significance |
| rs199611176 | 5:150,519,008 | C/A | — | uncertain significance |
| rs200516508 | 5:150,519,791 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.