ARHGAP6
Rho GTPase activating protein 6
Summary
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs755537648 | X:11,138,167 | T/C | — | likely benign |
| rs781454003 | X:11,157,005 | G/A | — | uncertain significance |
| rs1329074511 | X:11,157,006 | C/T | — | likely benign |
| rs770508263 | X:11,157,054 | T/C | — | uncertain significance |
| rs763040938 | X:11,157,119 | T/A | — | uncertain significance |
| rs1469592263 | X:11,157,124 | G/A | — | likely benign |
| rs139894176 | X:11,157,132 | G/A | — | benign |
| rs201148704 | X:11,157,162 | C/T | — | uncertain significance |
| rs199981819 | X:11,157,189 | G/C | — | benign |
| rs188030198 | X:11,157,198 | C/A | — | benign |
| rs767639041 | X:11,157,206 | G/T | — | uncertain significance |
| rs201221649 | X:11,157,272 | C/T | — | uncertain significance |
| rs1320911529 | X:11,157,273 | G/A | — | uncertain significance |
| rs1317708944 | X:11,157,315 | G/T | — | uncertain significance |
| rs760999481 | X:11,157,320 | G/C | — | uncertain significance |
| rs982285428 | X:11,157,324 | G/A | — | uncertain significance |
| rs761461918 | X:11,157,336 | C/T | — | uncertain significance |
| rs1260392486 | X:11,157,348 | G/C | — | uncertain significance |
| rs113239937 | X:11,157,385 | C/T | — | benign |
| rs951058337 | X:11,157,403 | G/A | — | likely benign |
| rs777711140 | X:11,157,414 | G/A | — | uncertain significance |
| rs2045588892 | X:11,157,474 | G/A | — | uncertain significance |
| rs754423051 | X:11,157,527 | G/A | — | uncertain significance |
| rs1602721512 | X:11,160,366 | G/A | — | likely benign |
| rs72558047 | X:11,160,419 | G/T | — | likely benign |
| rs756872843 | X:11,162,005 | C/T | — | likely benign |
| rs751497467 | X:11,162,144 | G/A | — | uncertain significance |
| rs985013029 | X:11,162,194 | C/T | — | likely benign |
| rs140286676 | X:11,162,197 | C/T | — | benign |
| rs2518495297 | X:11,162,225 | A/G | — | uncertain significance |
| rs367721228 | X:11,162,373 | C/A | — | likely benign |
| rs769596416 | X:11,187,669 | C/T | — | likely benign |
| rs898986058 | X:11,187,695 | C/T | — | uncertain significance |
| rs483352735 | X:11,187,759 | C/A | — | uncertain significance |
| rs72558043 | X:11,196,250 | G/A | — | benign |
| rs72558042 | X:11,196,271 | G/T | — | benign |
| rs777197971 | X:11,196,288 | G/A | — | uncertain significance |
| rs2518561862 | X:11,197,566 | C/T | — | uncertain significance |
| rs373458914 | X:11,200,187 | C/T | — | uncertain significance |
| rs1404266777 | X:11,204,374 | G/T | — | uncertain significance |
| rs45624238 | X:11,204,390 | C/T | — | benign |
| rs144289365 | X:11,204,433 | T/C | — | uncertain significance |
| rs199543482 | X:11,204,450 | C/G | — | uncertain significance |
| rs1362203481 | X:11,207,018 | C/G | — | uncertain significance |
| rs146662506 | X:11,207,098 | A/C | — | uncertain significance |
| rs138271349 | X:11,209,184 | C/T | intron variant | — |
| rs975870818 | X:11,215,096 | A/G | — | uncertain significance |
| rs1490202272 | X:11,272,782 | T/G | — | likely benign |
| rs1473292516 | X:11,272,836 | C/A | — | likely benign |
| rs17321447 | X:11,283,825 | G/T | — | — |
| rs777487143 | X:11,284,011 | G/A | — | likely benign |
| rs5979390 | X:11,295,309 | C/T | intron variant | — |
| rs150568503 | X:11,330,819 | T/G | intron variant | — |
| rs2788524 | X:11,339,211 | G/A | upstream gene variant | — |
| rs12388118 | X:11,380,742 | T/G | — | — |
| rs5935037 | X:11,381,616 | G/A | regulatory region variant | — |
| rs5933886 | X:11,463,381 | C/T | intron variant | — |
| rs750456871 | X:11,682,375 | C/A | — | uncertain significance |
| rs111800080 | X:11,682,379 | G/A | — | benign |
| rs2052730718 | X:11,682,405 | G/C | — | uncertain significance |
| rs770537973 | X:11,682,458 | T/C | — | uncertain significance |
| rs144462941 | X:11,682,470 | C/A | — | conflicting classifications of pathogenicity |
| rs756671029 | X:11,682,533 | A/G | — | uncertain significance |
| rs1188248646 | X:11,682,565 | G/T | — | likely benign |
| rs201256787 | X:11,682,602 | C/T | — | uncertain significance |
| rs1257879828 | X:11,682,605 | G/T | — | uncertain significance |
| rs1199653478 | X:11,682,612 | A/C | — | uncertain significance |
| rs376163184 | X:11,682,654 | G/A | — | conflicting classifications of pathogenicity |
| rs1368452423 | X:11,682,758 | C/G | — | uncertain significance |
| rs2519243927 | X:11,682,768 | T/G | — | uncertain significance |
| rs769616573 | X:11,682,773 | C/T | — | uncertain significance |
| rs774547900 | X:11,682,778 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.