ICA1
islet cell autoantigen 1
Summary
This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138213995 | 7:8,153,618 | C/T | — | uncertain significance |
| rs6463768 | 7:8,157,887 | C/G | downstream gene variant | — |
| rs544648114 | 7:8,167,520 | A/G | — | uncertain significance |
| rs748302837 | 7:8,167,583 | G/A | — | uncertain significance |
| rs1469947725 | 7:8,167,682 | G/A | — | uncertain significance |
| rs2128066116 | 7:8,167,703 | C/A | — | uncertain significance |
| rs777982679 | 7:8,167,760 | G/A | — | uncertain significance |
| rs140184228 | 7:8,167,764 | C/T | — | uncertain significance |
| rs201153458 | 7:8,167,769 | C/T | — | uncertain significance |
| rs17143586 | 7:8,177,397 | C/A | intron variant | — |
| rs143861719 | 7:8,178,473 | C/T | — | uncertain significance |
| rs917797466 | 7:8,178,491 | C/T | — | uncertain significance |
| rs1362873361 | 7:8,178,618 | A/T | — | uncertain significance |
| rs6943336 | 7:8,179,913 | C/A | intron variant | — |
| rs1338529928 | 7:8,181,404 | T/C | — | uncertain significance |
| rs780835255 | 7:8,181,409 | G/A | — | uncertain significance |
| rs570072277 | 7:8,181,419 | G/A | — | uncertain significance |
| rs150396130 | 7:8,183,507 | G/T | — | uncertain significance |
| rs773767906 | 7:8,183,511 | G/A | — | uncertain significance |
| rs373265813 | 7:8,183,512 | G/A | — | uncertain significance |
| rs753243541 | 7:8,183,516 | C/G | — | uncertain significance |
| rs201144120 | 7:8,183,523 | G/A | — | uncertain significance |
| rs142395028 | 7:8,183,532 | G/A | — | uncertain significance |
| rs1172363522 | 7:8,183,579 | T/G | — | uncertain significance |
| rs73674888 | 7:8,196,571 | A/G | — | benign |
| rs73674889 | 7:8,196,575 | A/G | — | benign |
| rs1801903173 | 7:8,196,777 | C/A | — | uncertain significance |
| rs1293275941 | 7:8,196,778 | C/A | — | uncertain significance |
| rs768011171 | 7:8,196,781 | T/G | — | uncertain significance |
| rs2547148041 | 7:8,198,195 | T/C | — | uncertain significance |
| rs772473952 | 7:8,198,244 | G/C | — | uncertain significance |
| rs1330868833 | 7:8,198,252 | T/A | — | uncertain significance |
| rs7802005 | 7:8,198,280 | T/C | — | benign |
| rs374280842 | 7:8,257,945 | T/G | — | uncertain significance |
| rs1204682485 | 7:8,257,951 | A/T | — | uncertain significance |
| rs200206180 | 7:8,258,006 | G/C | — | uncertain significance |
| rs141168942 | 7:8,258,080 | C/T | — | uncertain significance |
| rs866165571 | 7:8,258,117 | G/T | — | uncertain significance |
| rs137948932 | 7:8,258,123 | G/C | — | uncertain significance |
| rs776283943 | 7:8,260,989 | C/T | — | uncertain significance |
| rs78897311 | 7:8,270,552 | A/C | — | — |
| rs557314775 | 7:8,272,242 | G/A | — | uncertain significance |
| rs111929656 | 7:8,272,259 | A/G | — | benign |
| rs1312052034 | 7:8,272,372 | C/T | — | uncertain significance |
| rs779789569 | 7:8,275,545 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.