RAP1GAP
RAP1 GTPase activating protein
Summary
This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142729908 | 1:21,924,509 | G/A | — | uncertain significance |
| rs777993196 | 1:21,924,528 | C/T | — | uncertain significance |
| rs2545605206 | 1:21,924,967 | T/C | — | uncertain significance |
| rs372112375 | 1:21,924,969 | G/A | — | likely benign |
| rs762106725 | 1:21,924,971 | G/T | — | uncertain significance |
| rs2545607469 | 1:21,924,988 | A/G | — | uncertain significance |
| rs377422449 | 1:21,925,998 | C/G | — | uncertain significance |
| rs753144046 | 1:21,926,009 | A/C | — | uncertain significance |
| rs138045307 | 1:21,926,031 | C/T | — | uncertain significance |
| rs765980258 | 1:21,926,081 | G/A | — | likely benign |
| rs763968945 | 1:21,928,228 | G/A | — | uncertain significance |
| rs1392062838 | 1:21,929,319 | T/C | — | uncertain significance |
| rs756378342 | 1:21,934,815 | G/A | — | uncertain significance |
| rs759863228 | 1:21,935,389 | T/C | — | uncertain significance |
| rs767492148 | 1:21,935,402 | T/C | — | uncertain significance |
| rs2546709549 | 1:21,936,087 | T/G | — | uncertain significance |
| rs775719580 | 1:21,936,138 | A/G | — | uncertain significance |
| rs556373808 | 1:21,938,270 | G/T | — | uncertain significance |
| rs759618497 | 1:21,938,535 | T/C | — | uncertain significance |
| rs144840782 | 1:21,938,562 | C/G | — | uncertain significance |
| rs142233496 | 1:21,938,584 | T/C | missense variant | — |
| rs2546992706 | 1:21,939,683 | C/T | — | uncertain significance |
| rs563762085 | 1:21,940,519 | C/T | — | uncertain significance |
| rs918592859 | 1:21,940,552 | C/A | — | uncertain significance |
| rs1474054387 | 1:21,940,558 | C/A | — | uncertain significance |
| rs829417 | 1:21,943,136 | C/T | regulatory region variant | — |
| rs1372716850 | 1:21,943,811 | G/C | — | uncertain significance |
| rs2547284087 | 1:21,943,821 | T/C | — | uncertain significance |
| rs1236843410 | 1:21,944,429 | C/T | — | uncertain significance |
| rs145342478 | 1:21,945,544 | G/T | — | uncertain significance |
| rs1187398941 | 1:21,945,553 | C/G | — | uncertain significance |
| rs367781095 | 1:21,952,840 | C/T | — | uncertain significance |
| rs370266173 | 1:21,952,852 | A/G | — | uncertain significance |
| rs1130564 | 1:21,952,884 | G/T | missense variant | — |
| rs9426674 | 1:21,957,239 | G/A | — | — |
| rs571542506 | 1:21,976,279 | A/G | — | uncertain significance |
| rs2096593574 | 1:21,978,286 | G/T | — | uncertain significance |
| rs2096594319 | 1:21,978,294 | A/G | — | uncertain significance |
| rs4654976 | 1:21,987,094 | C/T | intron variant | — |
| rs829375 | 1:21,991,235 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.