ARHGAP11A
Rho GTPase activating protein 11A
Summary
This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1463961280 | 15:32,908,471 | G/T | — | uncertain significance |
| rs1388474364 | 15:32,908,527 | G/A | — | uncertain significance |
| rs750175172 | 15:32,915,741 | A/T | — | uncertain significance |
| rs374331846 | 15:32,916,384 | A/G | — | uncertain significance |
| rs550817663 | 15:32,916,387 | A/G | — | likely benign |
| rs145707437 | 15:32,916,403 | A/G | — | benign |
| rs1340082884 | 15:32,916,414 | C/T | — | likely benign |
| rs1034278760 | 15:32,916,435 | T/A | — | uncertain significance |
| rs1421893803 | 15:32,917,370 | C/T | — | uncertain significance |
| rs777678826 | 15:32,917,720 | C/A | — | uncertain significance |
| rs1281756347 | 15:32,917,724 | C/T | — | uncertain significance |
| rs150942311 | 15:32,917,742 | G/T | — | uncertain significance |
| rs1169454226 | 15:32,917,762 | C/T | — | likely benign |
| rs1022096377 | 15:32,917,769 | G/A | — | uncertain significance |
| rs372419991 | 15:32,920,998 | G/T | — | no classification for the single variant |
| rs145484357 | 15:32,921,822 | C/T | — | uncertain significance |
| rs2053543575 | 15:32,921,835 | C/A | — | uncertain significance |
| rs74011135 | 15:32,921,843 | A/G | — | benign |
| rs149174992 | 15:32,921,848 | G/T | — | uncertain significance |
| rs140472511 | 15:32,921,855 | G/C | — | benign |
| rs181899708 | 15:32,921,956 | G/A | — | benign |
| rs759497241 | 15:32,925,201 | A/G | — | uncertain significance |
| rs2053620205 | 15:32,925,236 | A/G | — | uncertain significance |
| rs2504615460 | 15:32,925,242 | G/A | — | uncertain significance |
| rs61733063 | 15:32,925,274 | G/A | — | benign |
| rs77409359 | 15:32,925,314 | T/G | — | benign |
| rs200219557 | 15:32,926,162 | T/C | — | uncertain significance |
| rs1347626253 | 15:32,926,165 | C/T | — | uncertain significance |
| rs8037818 | 15:32,927,476 | C/G | — | — |
| rs146176251 | 15:32,927,988 | C/G | — | no classification for the single variant |
| rs771249842 | 15:32,928,021 | G/A | — | uncertain significance |
| rs2504630335 | 15:32,928,042 | T/C | — | uncertain significance |
| rs2053697819 | 15:32,928,068 | A/G | — | uncertain significance |
| rs752641580 | 15:32,928,078 | T/A | — | uncertain significance |
| rs2053712342 | 15:32,928,530 | T/G | — | uncertain significance |
| rs115031896 | 15:32,928,635 | T/C | — | uncertain significance |
| rs1038225235 | 15:32,928,652 | C/A | — | uncertain significance |
| rs1428375140 | 15:32,928,784 | T/G | — | uncertain significance |
| rs2504637062 | 15:32,928,869 | C/A | — | uncertain significance |
| rs2504637390 | 15:32,928,908 | A/G | — | uncertain significance |
| rs1188347193 | 15:32,928,963 | T/C | — | likely benign |
| rs747141868 | 15:32,929,219 | C/T | — | uncertain significance |
| rs768693478 | 15:32,929,220 | C/T | — | likely benign |
| rs1230716976 | 15:32,929,259 | C/G | — | uncertain significance |
| rs199674507 | 15:32,929,312 | A/G | — | likely benign |
| rs748219310 | 15:32,929,337 | T/C | — | uncertain significance |
| rs555387669 | 15:32,929,344 | — | — | pathogenic |
| rs1330480062 | 15:32,929,361 | C/T | — | uncertain significance |
| rs768021852 | 15:32,929,439 | C/T | — | uncertain significance |
| rs2504642220 | 15:32,929,446 | A/T | — | uncertain significance |
| rs2504642809 | 15:32,929,523 | A/C | — | uncertain significance |
| rs753922473 | 15:32,929,607 | G/C | — | uncertain significance |
| rs76126135 | 15:32,929,683 | G/A | — | benign |
| rs2504644865 | 15:32,929,740 | G/T | — | uncertain significance |
| rs1391644386 | 15:32,929,841 | G/A | — | uncertain significance |
| rs28754599 | 15:32,929,908 | C/T | — | benign |
| rs530631878 | 15:32,929,909 | A/G | — | uncertain significance |
| rs754304350 | 15:32,929,934 | A/T | — | uncertain significance |
| rs376361608 | 15:32,930,002 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.