RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Summary
This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757263828 | 2:204,304,221 | C/T | — | uncertain significance |
| rs2098501318 | 2:204,304,247 | A/T | — | uncertain significance |
| rs1204016896 | 2:204,304,302 | G/A | — | uncertain significance |
| rs146219972 | 2:204,304,519 | G/A | — | uncertain significance |
| rs757405263 | 2:204,304,542 | C/T | — | uncertain significance |
| rs780575383 | 2:204,304,578 | G/C | — | uncertain significance |
| rs1559438510 | 2:204,304,623 | G/C | — | uncertain significance |
| rs750408580 | 2:204,304,656 | G/C | — | uncertain significance |
| rs745344469 | 2:204,304,732 | C/T | — | likely benign |
| rs2098501974 | 2:204,304,765 | C/T | — | uncertain significance |
| rs371156191 | 2:204,304,843 | G/T | — | uncertain significance |
| rs2098502094 | 2:204,304,855 | G/A | — | uncertain significance |
| rs149709668 | 2:204,304,897 | G/T | — | uncertain significance |
| rs147887694 | 2:204,304,926 | G/A | — | uncertain significance |
| rs374132031 | 2:204,304,942 | C/T | — | uncertain significance |
| rs1413290737 | 2:204,304,984 | G/A | — | uncertain significance |
| rs2098502290 | 2:204,305,010 | C/A | — | uncertain significance |
| rs764670222 | 2:204,305,046 | G/A | — | uncertain significance |
| rs2468792684 | 2:204,305,106 | G/A | — | uncertain significance |
| rs2468792994 | 2:204,305,130 | G/C | — | uncertain significance |
| rs2468793242 | 2:204,305,158 | G/T | — | uncertain significance |
| rs750204051 | 2:204,305,299 | G/A | — | uncertain significance |
| rs778393992 | 2:204,305,329 | C/T | — | uncertain significance |
| rs768355883 | 2:204,305,340 | A/G | — | uncertain significance |
| rs138374081 | 2:204,305,398 | T/C | — | uncertain significance |
| rs369238546 | 2:204,305,424 | G/A | — | uncertain significance |
| rs142211303 | 2:204,305,520 | A/T | — | uncertain significance |
| rs149798506 | 2:204,305,554 | C/T | — | uncertain significance |
| rs372748969 | 2:204,305,557 | G/A | — | uncertain significance |
| rs764179644 | 2:204,305,619 | G/A | — | uncertain significance |
| rs769654955 | 2:204,305,685 | G/A | — | uncertain significance |
| rs201848468 | 2:204,305,691 | C/A | — | uncertain significance |
| rs952916034 | 2:204,305,739 | A/C | — | uncertain significance |
| rs754349875 | 2:204,305,761 | G/A | — | uncertain significance |
| rs143389596 | 2:204,305,817 | G/A | — | uncertain significance |
| rs2098503547 | 2:204,305,907 | G/A | — | uncertain significance |
| rs753321714 | 2:204,305,978 | A/G | — | likely benign |
| rs766013584 | 2:204,306,063 | G/A | — | uncertain significance |
| rs2468806581 | 2:204,306,069 | A/G | — | uncertain significance |
| rs541342499 | 2:204,306,093 | G/A | — | uncertain significance |
| rs2098508030 | 2:204,309,596 | T/C | — | uncertain significance |
| rs146618916 | 2:204,309,644 | A/C | — | uncertain significance |
| rs149852656 | 2:204,309,653 | T/A | — | uncertain significance |
| rs1246862687 | 2:204,309,727 | T/C | — | uncertain significance |
| rs78291298 | 2:204,312,707 | C/T | — | benign |
| rs184614981 | 2:204,312,798 | C/T | — | uncertain significance |
| rs201565612 | 2:204,313,480 | T/C | — | uncertain significance |
| rs200677791 | 2:204,313,498 | G/A | — | uncertain significance |
| rs1382709366 | 2:204,319,234 | C/G | — | uncertain significance |
| rs2468894403 | 2:204,319,236 | G/C | — | uncertain significance |
| rs35068009 | 2:204,320,182 | T/C | — | uncertain significance |
| rs559564806 | 2:204,320,215 | C/T | — | uncertain significance |
| rs193920935 | 2:204,322,288 | C/A | — | uncertain significance |
| rs2468938797 | 2:204,326,646 | T/G | — | uncertain significance |
| rs6732162 | 2:204,327,211 | T/C | intron variant | — |
| rs2732869 | 2:204,346,317 | T/C | intron variant | — |
| rs1688155036 | 2:204,354,395 | G/A | — | uncertain significance |
| rs781712295 | 2:204,354,470 | G/T | — | uncertain significance |
| rs1688162091 | 2:204,354,489 | T/C | — | uncertain significance |
| rs2469099321 | 2:204,354,591 | T/C | — | uncertain significance |
| rs570125130 | 2:204,354,602 | G/A | — | uncertain significance |
| rs752102651 | 2:204,354,618 | T/C | — | uncertain significance |
| rs375822534 | 2:204,354,753 | T/C | — | uncertain significance |
| rs2469101450 | 2:204,354,762 | G/C | — | uncertain significance |
| rs62182788 | 2:204,355,523 | T/A | — | — |
| rs2469136780 | 2:204,359,998 | T/C | — | uncertain significance |
| rs11683935 | 2:204,377,871 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.