BANK1
B cell scaffold protein with ankyrin repeats 1
Summary
The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766984744 | 4:102,712,062 | G/A | — | uncertain significance |
| rs1724956051 | 4:102,712,066 | T/G | — | uncertain significance |
| rs778255689 | 4:102,712,089 | T/G | — | uncertain significance |
| rs908389246 | 4:102,712,092 | G/T | — | uncertain significance |
| rs4522865 | 4:102,715,888 | G/C | — | — |
| rs80136231 | 4:102,720,234 | A/G | intron variant | — |
| rs17266357 | 4:102,721,809 | T/C | intron variant | — |
| rs10028805 | 4:102,737,250 | G/A | intron variant | — |
| rs13106926 | 4:102,739,791 | A/G | regulatory region variant | — |
| rs71597109 | 4:102,741,002 | C/T | intron variant | — |
| rs17266594 | 4:102,750,922 | T/C | intron variant | — |
| rs35978636 | 4:102,751,014 | G/C | — | likely benign |
| rs148782653 | 4:102,751,046 | T/C | — | uncertain significance |
| rs769134760 | 4:102,751,075 | C/T | — | uncertain significance |
| rs10516487 | 4:102,751,076 | G/A | missense variant | uncertain significance |
| rs367693182 | 4:102,751,166 | G/C | — | uncertain significance |
| rs369391063 | 4:102,751,219 | A/C | — | uncertain significance |
| rs759641490 | 4:102,751,303 | A/T | — | uncertain significance |
| rs1240712190 | 4:102,751,349 | G/A | — | uncertain significance |
| rs1200879981 | 4:102,751,360 | A/G | — | uncertain significance |
| rs10856963 | 4:102,770,684 | A/G | intron variant | — |
| rs551900572 | 4:102,776,224 | A/G | — | uncertain significance |
| rs1284857589 | 4:102,776,227 | G/T | — | uncertain significance |
| rs746235537 | 4:102,776,242 | C/T | — | uncertain significance |
| rs200127706 | 4:102,776,256 | A/G | — | uncertain significance |
| rs1403258433 | 4:102,776,282 | T/C | — | uncertain significance |
| rs199571267 | 4:102,783,767 | A/C | — | uncertain significance |
| rs776078480 | 4:102,791,759 | A/C | — | uncertain significance |
| rs73836621 | 4:102,791,797 | G/T | — | uncertain significance |
| rs10016018 | 4:102,794,621 | A/T | intron variant | — |
| rs7679882 | 4:102,799,072 | C/T | — | — |
| rs4698839 | 4:102,801,941 | C/T | intron variant | — |
| rs114614648 | 4:102,810,526 | C/T | intron variant | — |
| rs777623135 | 4:102,816,498 | A/G | — | uncertain significance |
| rs200190290 | 4:102,816,513 | A/G | — | uncertain significance |
| rs144793939 | 4:102,816,514 | T/C | — | uncertain significance |
| rs150616221 | 4:102,816,560 | A/G | — | likely benign |
| rs62688361 | 4:102,822,920 | G/T | — | — |
| rs370190414 | 4:102,839,173 | A/G | — | uncertain significance |
| rs764086576 | 4:102,839,205 | A/T | — | uncertain significance |
| rs1722885104 | 4:102,839,239 | G/A | — | uncertain significance |
| rs771310927 | 4:102,839,260 | A/T | — | uncertain significance |
| rs3733197 | 4:102,839,287 | G/A | missense variant | — |
| rs13126505 | 4:102,865,304 | G/A | intron variant | — |
| rs2631249 | 4:102,872,175 | A/C | — | — |
| rs62322696 | 4:102,894,289 | G/A | regulatory region variant | — |
| rs34205595 | 4:102,903,175 | C/T | regulatory region variant | — |
| rs376206821 | 4:102,931,278 | C/T | — | — |
| rs2476022222 | 4:102,942,735 | C/T | — | uncertain significance |
| rs375068296 | 4:102,946,418 | G/C | — | uncertain significance |
| rs377733591 | 4:102,946,451 | A/G | — | uncertain significance |
| rs764312059 | 4:102,946,583 | T/A | — | uncertain significance |
| rs140895625 | 4:102,946,592 | G/A | — | uncertain significance |
| rs374205284 | 4:102,946,597 | C/T | — | uncertain significance |
| rs150848399 | 4:102,946,609 | C/G | — | uncertain significance |
| rs774795790 | 4:102,946,613 | C/T | — | uncertain significance |
| rs150228862 | 4:102,949,070 | C/T | intron variant | — |
| rs754765481 | 4:102,951,179 | G/A | — | uncertain significance |
| rs765102387 | 4:102,951,185 | G/A | — | uncertain significance |
| rs145161554 | 4:102,951,230 | G/A | — | uncertain significance |
| rs749781056 | 4:102,951,241 | G/T | — | uncertain significance |
| rs775565216 | 4:102,951,400 | A/C | — | uncertain significance |
| rs2476067581 | 4:102,965,013 | G/A | — | uncertain significance |
| rs140337324 | 4:102,965,016 | A/G | — | uncertain significance |
| rs781518455 | 4:102,965,038 | A/C | — | uncertain significance |
| rs1183802726 | 4:102,981,404 | T/C | — | uncertain significance |
| rs759151716 | 4:102,981,415 | C/G | — | uncertain significance |
| rs778879836 | 4:102,981,457 | G/T | — | uncertain significance |
| rs192793442 | 4:102,984,242 | G/A | — | uncertain significance |
| rs138372719 | 4:102,993,529 | A/C | — | uncertain significance |
| rs144123297 | 4:102,993,534 | T/C | — | likely benign |
| rs35484557 | 4:102,993,543 | C/T | — | conflicting classifications of pathogenicity |
| rs762697682 | 4:102,994,848 | C/T | — | uncertain significance |
| rs777842490 | 4:102,994,889 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.