RGS14
regulator of G protein signaling 14
Summary
This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187945927 | 5:176,784,402 | C/T | regulatory region variant | — |
| rs4976689 | 5:176,784,448 | C/A | — | — |
| rs4075958 | 5:176,784,512 | G/A | regulatory region variant | benign |
| rs370226296 | 5:176,785,066 | G/A | — | uncertain significance |
| rs4976647 | 5:176,788,622 | A/C | intron variant | — |
| rs67111717 | 5:176,790,162 | A/G | regulatory region variant | — |
| rs11135015 | 5:176,792,557 | T/C | intron variant | — |
| rs11741640 | 5:176,792,743 | G/A | intron variant | — |
| rs755598177 | 5:176,793,204 | G/T | — | uncertain significance |
| rs778150762 | 5:176,793,213 | G/A | — | uncertain significance |
| rs768117182 | 5:176,793,282 | G/A | — | uncertain significance |
| rs2480972277 | 5:176,793,283 | A/G | — | uncertain significance |
| rs372902128 | 5:176,793,970 | G/A | — | uncertain significance |
| rs12654812 | 5:176,794,191 | G/T | — | — |
| rs772672265 | 5:176,794,745 | C/T | — | uncertain significance |
| rs762902174 | 5:176,794,746 | C/T | — | uncertain significance |
| rs759019939 | 5:176,794,794 | G/A | — | uncertain significance |
| rs763205618 | 5:176,795,160 | C/G | — | uncertain significance |
| rs766600843 | 5:176,795,161 | T/G | — | uncertain significance |
| rs576366369 | 5:176,795,197 | C/T | — | uncertain significance |
| rs907920745 | 5:176,795,748 | G/T | — | uncertain significance |
| rs2480981238 | 5:176,795,881 | C/G | — | uncertain significance |
| rs4074995 | 5:176,797,343 | G/A | intron variant | — |
| rs767167856 | 5:176,797,607 | C/G | — | uncertain significance |
| rs774812225 | 5:176,797,619 | G/A | — | uncertain significance |
| rs201976185 | 5:176,797,655 | A/G | — | uncertain significance |
| rs750875606 | 5:176,797,934 | G/A | — | uncertain significance |
| rs746670449 | 5:176,797,953 | C/G | — | uncertain significance |
| rs780724192 | 5:176,797,956 | C/G | — | uncertain significance |
| rs770662818 | 5:176,797,991 | G/A | — | uncertain significance |
| rs56235845 | 5:176,798,040 | T/G | splice region variant | — |
| rs199570345 | 5:176,798,193 | G/A | — | uncertain significance |
| rs2480987605 | 5:176,798,194 | G/A | — | likely benign |
| rs11746443 | 5:176,798,306 | G/A | regulatory region variant | — |
| rs369021424 | 5:176,798,378 | A/G | — | uncertain significance |
| rs765923339 | 5:176,798,509 | C/T | — | uncertain significance |
| rs1177082494 | 5:176,798,522 | C/T | — | likely benign |
| rs1445555063 | 5:176,798,530 | A/G | — | uncertain significance |
| rs376389265 | 5:176,798,979 | C/T | — | uncertain significance |
| rs149981884 | 5:176,798,996 | G/C | — | likely benign |
| rs377596459 | 5:176,799,017 | A/G | — | likely benign |
| rs764685502 | 5:176,799,060 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.