ARHGAP8
Rho GTPase activating protein 8
Summary
This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5765956 | 22:45,150,659 | C/T | regulatory region variant | — |
| rs138492067 | 22:45,182,425 | T/A | — | likely benign |
| rs200833725 | 22:45,182,456 | G/A | — | uncertain significance |
| rs148741292 | 22:45,182,469 | G/A | — | uncertain significance |
| rs16992796 | 22:45,183,014 | A/G | intron variant | — |
| rs569752689 | 22:45,197,965 | C/G | — | uncertain significance |
| rs368399115 | 22:45,197,978 | G/A | — | uncertain significance |
| rs201465628 | 22:45,197,981 | T/C | — | uncertain significance |
| rs1296171325 | 22:45,198,010 | C/G | — | uncertain significance |
| rs746159688 | 22:45,198,027 | C/A | — | uncertain significance |
| rs2518448208 | 22:45,204,201 | C/T | — | uncertain significance |
| rs959478163 | 22:45,204,224 | G/A | — | uncertain significance |
| rs148162583 | 22:45,204,311 | G/C | — | uncertain significance |
| rs1187087068 | 22:45,204,966 | A/G | — | likely benign |
| rs559051849 | 22:45,204,976 | C/T | — | likely benign |
| rs756279477 | 22:45,218,265 | A/G | — | uncertain significance |
| rs201467717 | 22:45,218,277 | A/G | — | uncertain significance |
| rs769411423 | 22:45,218,293 | T/A | — | uncertain significance |
| rs371746347 | 22:45,218,303 | G/A | — | uncertain significance |
| rs2518489560 | 22:45,218,331 | T/C | — | uncertain significance |
| rs748155892 | 22:45,218,348 | C/G | — | uncertain significance |
| rs753817080 | 22:45,221,369 | T/A | — | uncertain significance |
| rs74393756 | 22:45,221,404 | C/T | — | benign |
| rs565896716 | 22:45,221,428 | C/T | — | uncertain significance |
| rs755347776 | 22:45,221,431 | G/A | — | uncertain significance |
| rs140257857 | 22:45,221,460 | G/A | — | uncertain significance |
| rs2518545972 | 22:45,241,162 | A/G | — | uncertain significance |
| rs540915857 | 22:45,241,171 | G/A | — | uncertain significance |
| rs772909625 | 22:45,241,183 | C/T | — | uncertain significance |
| rs2518546121 | 22:45,241,195 | T/A | — | uncertain significance |
| rs1369611718 | 22:45,243,871 | T/C | — | uncertain significance |
| rs754393672 | 22:45,243,885 | G/A | — | uncertain significance |
| rs200649519 | 22:45,243,900 | G/A | — | likely benign |
| rs138302998 | 22:45,243,904 | G/A | — | uncertain significance |
| rs763538272 | 22:45,244,826 | T/G | — | uncertain significance |
| rs756829908 | 22:45,244,832 | G/A | — | uncertain significance |
| rs150614994 | 22:45,244,838 | G/A | — | uncertain significance |
| rs1264328406 | 22:45,244,893 | A/C | — | uncertain significance |
| rs726170 | 22:45,251,811 | C/T | intron variant | — |
| rs140395831 | 22:45,255,619 | A/C | — | likely benign |
| rs568417355 | 22:45,255,631 | G/C | — | uncertain significance |
| rs766112568 | 22:45,255,640 | T/G | — | uncertain significance |
| rs200062058 | 22:45,255,643 | C/T | — | uncertain significance |
| rs2518596788 | 22:45,255,650 | T/A | — | uncertain significance |
| rs2147197860 | 22:45,255,652 | T/G | — | uncertain significance |
| rs147192731 | 22:45,255,679 | G/A | — | uncertain significance |
| rs73176189 | 22:45,255,688 | C/T | — | likely benign |
| rs149853709 | 22:45,255,689 | G/A | — | uncertain significance |
| rs758790298 | 22:45,255,692 | A/G | — | uncertain significance |
| rs150225391 | 22:45,258,161 | C/T | — | uncertain significance |
| rs2070531946 | 22:45,258,170 | A/G | — | uncertain significance |
| rs1157301347 | 22:45,258,184 | G/T | — | uncertain significance |
| rs143652701 | 22:45,258,192 | C/T | — | uncertain significance |
| rs199958233 | 22:45,258,212 | G/A | — | uncertain significance |
| rs1292946626 | 22:45,258,218 | A/C | — | uncertain significance |
| rs200531866 | 22:45,258,233 | T/G | — | uncertain significance |
| rs2518615755 | 22:45,258,245 | T/G | — | uncertain significance |
| rs1257743476 | 22:45,258,254 | A/C | — | uncertain significance |
| rs776955308 | 22:45,258,257 | G/A | — | uncertain significance |
| rs770735672 | 22:45,258,261 | T/G | — | uncertain significance |
| rs753550836 | 22:45,258,267 | C/G | — | uncertain significance |
| rs2518616030 | 22:45,258,269 | C/G | — | uncertain significance |
| rs532603393 | 22:45,258,275 | A/G | — | uncertain significance |
| rs149982577 | 22:45,258,295 | C/G | — | uncertain significance |
| rs527743751 | 22:45,258,303 | A/G | — | uncertain significance |
| rs566631776 | 22:45,258,323 | C/G | — | uncertain significance |
| rs763364625 | 22:45,258,326 | G/C | — | uncertain significance |
| rs760106218 | 22:45,258,330 | C/T | — | uncertain significance |
| rs9614957 | 22:45,258,333 | C/G | — | uncertain significance |
| rs376107530 | 22:45,258,389 | G/A | — | uncertain significance |
| rs144546780 | 22:45,258,402 | G/A | — | likely benign |
| rs201933315 | 22:45,258,408 | A/G | — | likely benign |
| rs1237263340 | 22:45,258,411 | C/T | — | uncertain significance |
| rs148880070 | 22:45,258,414 | C/T | — | uncertain significance |
| rs201231949 | 22:45,258,426 | A/C | — | likely benign |
| rs747350322 | 22:45,258,429 | C/T | — | uncertain significance |
| rs781696528 | 22:45,258,431 | A/C | — | uncertain significance |
| rs573395597 | 22:45,258,441 | C/T | — | uncertain significance |
| rs749869418 | 22:45,258,446 | C/G | — | uncertain significance |
| rs376235062 | 22:45,258,468 | G/C | — | uncertain significance |
| rs560116830 | 22:45,258,470 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.