ARHGAP42
Rho GTPase activating protein 42
Summary
This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147180569 | 11:100,568,695 | A/G | intron variant | — |
| rs670401 | 11:100,572,410 | A/G | intron variant | — |
| rs1847149 | 11:100,579,854 | C/A | — | — |
| rs1234988 | 11:100,581,320 | G/A | intron variant | — |
| rs2298609 | 11:100,582,699 | A/G | intron variant | — |
| rs1502284 | 11:100,584,150 | T/G | intron variant | — |
| rs633185 | 11:100,593,538 | G/C | intron variant | — |
| rs604723 | 11:100,610,546 | T/C | regulatory region variant | — |
| rs4754697 | 11:100,616,571 | G/A | intron variant | — |
| rs4121392 | 11:100,643,423 | A/T | intron variant | — |
| rs686056 | 11:100,646,689 | G/A | regulatory region variant | — |
| rs588615 | 11:100,650,559 | C/A | intron variant | — |
| rs5794069 | 11:100,661,074 | T/G | — | — |
| rs57424381 | 11:100,718,637 | C/G | — | — |
| rs761509166 | 11:100,784,255 | G/A | — | uncertain significance |
| rs1367262487 | 11:100,792,240 | G/T | — | uncertain significance |
| rs2496467516 | 11:100,792,256 | A/T | — | uncertain significance |
| rs749979796 | 11:100,792,262 | A/G | — | uncertain significance |
| rs2496497087 | 11:100,803,935 | G/A | — | uncertain significance |
| rs11224526 | 11:100,805,935 | A/G | downstream gene variant | — |
| rs372092861 | 11:100,806,971 | A/G | — | uncertain significance |
| rs374533080 | 11:100,807,019 | C/T | — | uncertain significance |
| rs1354242644 | 11:100,807,052 | T/C | — | uncertain significance |
| rs757606430 | 11:100,814,491 | A/G | — | uncertain significance |
| rs746263248 | 11:100,814,496 | C/T | — | uncertain significance |
| rs755444433 | 11:100,814,505 | A/G | — | uncertain significance |
| rs1417768893 | 11:100,814,511 | C/T | — | uncertain significance |
| rs183993732 | 11:100,814,512 | C/T | — | uncertain significance |
| rs1355546983 | 11:100,814,554 | A/G | — | uncertain significance |
| rs914147706 | 11:100,819,189 | C/T | — | uncertain significance |
| rs1394445309 | 11:100,819,223 | C/T | — | uncertain significance |
| rs1465585645 | 11:100,819,226 | A/G | — | uncertain significance |
| rs1408101474 | 11:100,820,675 | A/C | — | uncertain significance |
| rs1284109157 | 11:100,832,447 | A/G | — | uncertain significance |
| rs2496573791 | 11:100,832,463 | A/G | — | uncertain significance |
| rs376267724 | 11:100,843,926 | A/G | — | uncertain significance |
| rs1858340462 | 11:100,845,323 | C/A | — | uncertain significance |
| rs1250248101 | 11:100,845,325 | G/A | — | uncertain significance |
| rs1194074873 | 11:100,846,950 | G/A | — | uncertain significance |
| rs2496611402 | 11:100,847,135 | G/C | — | uncertain significance |
| rs1335251972 | 11:100,847,138 | T/G | — | likely benign |
| rs1320399975 | 11:100,847,142 | C/T | — | uncertain significance |
| rs990899997 | 11:100,847,618 | C/T | — | uncertain significance |
| rs962675099 | 11:100,847,652 | A/T | — | uncertain significance |
| rs923803690 | 11:100,847,689 | C/T | — | uncertain significance |
| rs1468758903 | 11:100,847,696 | G/C | — | uncertain significance |
| rs970856649 | 11:100,849,764 | C/G | — | uncertain significance |
| rs538314873 | 11:100,849,770 | T/C | — | uncertain significance |
| rs904495849 | 11:100,849,774 | C/T | — | uncertain significance |
| rs2496643048 | 11:100,858,288 | A/G | — | uncertain significance |
| rs73578094 | 11:100,863,050 | A/G | — | uncertain significance |
| rs200325839 | 11:100,863,083 | G/T | — | uncertain significance |
| rs2496655607 | 11:100,863,086 | C/T | — | uncertain significance |
| rs1858858480 | 11:100,863,154 | C/T | — | uncertain significance |
| rs149959826 | 11:100,863,164 | A/T | — | uncertain significance |
| rs148668544 | 11:100,863,246 | T/G | — | uncertain significance |
| rs574827948 | 11:100,863,325 | C/A | — | uncertain significance |
| rs760082580 | 11:100,863,358 | G/A | — | likely benign |
| rs368122394 | 11:100,863,402 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.