ARHGEF5
Rho guanine nucleotide exchange factor 5
Summary
Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2053652718 | 7:144,059,980 | A/G | — | uncertain significance |
| rs2486055042 | 7:144,060,004 | A/G | — | uncertain significance |
| rs2053653117 | 7:144,060,018 | G/A | — | uncertain significance |
| rs1185511304 | 7:144,060,105 | C/G | — | uncertain significance |
| rs1325494350 | 7:144,060,240 | A/T | — | uncertain significance |
| rs573109259 | 7:144,060,402 | G/A | — | uncertain significance |
| rs1198074265 | 7:144,060,429 | C/T | — | uncertain significance |
| rs769759551 | 7:144,060,437 | G/C | — | uncertain significance |
| rs539904703 | 7:144,060,465 | C/G | — | uncertain significance |
| rs1273796368 | 7:144,060,555 | G/T | — | uncertain significance |
| rs531958904 | 7:144,060,637 | G/A | — | uncertain significance |
| rs543899386 | 7:144,060,668 | C/T | — | likely benign |
| rs527499591 | 7:144,060,754 | A/G | — | likely benign |
| rs745931326 | 7:144,060,793 | A/G | — | uncertain significance |
| rs1300709881 | 7:144,060,852 | A/G | — | uncertain significance |
| rs776214865 | 7:144,060,854 | A/C | — | likely benign |
| rs756215695 | 7:144,060,990 | C/G | — | uncertain significance |
| rs1352404836 | 7:144,061,049 | G/A | — | uncertain significance |
| rs778931335 | 7:144,061,108 | T/C | — | uncertain significance |
| rs762699797 | 7:144,061,149 | A/G | — | uncertain significance |
| rs573070810 | 7:144,061,192 | A/G | — | uncertain significance |
| rs752820457 | 7:144,061,266 | G/T | — | conflicting classifications of pathogenicity |
| rs2053673972 | 7:144,061,393 | G/T | — | uncertain significance |
| rs2486059489 | 7:144,061,875 | C/A | — | uncertain significance |
| rs772010530 | 7:144,062,140 | C/T | — | uncertain significance |
| rs760701477 | 7:144,062,187 | T/C | — | uncertain significance |
| rs775619321 | 7:144,062,203 | C/T | — | uncertain significance |
| rs1249446452 | 7:144,062,294 | C/G | — | uncertain significance |
| rs774516378 | 7:144,062,339 | G/T | — | uncertain significance |
| rs144839349 | 7:144,062,364 | G/A | — | uncertain significance |
| rs769704083 | 7:144,062,446 | G/A | — | uncertain significance |
| rs773431606 | 7:144,062,462 | G/A | — | likely benign |
| rs2486061443 | 7:144,062,544 | A/G | — | uncertain significance |
| rs1315036880 | 7:144,062,638 | A/T | — | uncertain significance |
| rs1243523304 | 7:144,062,653 | C/T | — | uncertain significance |
| rs2486061902 | 7:144,062,775 | T/G | — | uncertain significance |
| rs1467937719 | 7:144,062,852 | C/A | — | uncertain significance |
| rs560154773 | 7:144,068,293 | C/T | — | uncertain significance |
| rs745308230 | 7:144,069,404 | C/G | — | likely benign |
| rs1360049836 | 7:144,069,444 | G/A | — | likely benign |
| rs768010897 | 7:144,069,825 | C/T | — | uncertain significance |
| rs1244753175 | 7:144,071,832 | C/T | — | uncertain significance |
| rs199530417 | 7:144,071,833 | G/A | — | likely benign |
| rs1587073552 | 7:144,074,233 | T/G | — | uncertain significance |
| rs720475 | 7:144,074,929 | G/A | intron variant | — |
| rs201067947 | 7:144,075,858 | C/G | — | uncertain significance |
| rs779393147 | 7:144,075,894 | G/A | — | uncertain significance |
| rs377004169 | 7:144,077,013 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.