RAP1GAP2
RAP1 GTPase activating protein 2
Summary
This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs178573 | 17:2,696,316 | C/G | — | — |
| rs178571 | 17:2,697,057 | T/A | — | — |
| rs178569 | 17:2,698,246 | A/G | — | — |
| rs11657759 | 17:2,715,961 | A/G | — | — |
| rs62089694 | 17:2,723,868 | C/A | — | — |
| rs1031320110 | 17:2,749,857 | A/G | — | — |
| rs12603284 | 17:2,771,512 | C/T | regulatory region variant | — |
| rs1076165 | 17:2,773,400 | G/A | intron variant | — |
| rs59403466 | 17:2,785,895 | T/G | intron variant | — |
| rs543243963 | 17:2,808,607 | C/T | — | likely benign |
| rs779304079 | 17:2,808,625 | C/T | — | uncertain significance |
| rs4790395 | 17:2,852,632 | C/A | — | — |
| rs748773199 | 17:2,866,727 | G/A | — | uncertain significance |
| rs2044431317 | 17:2,866,739 | T/C | — | uncertain significance |
| rs2544341163 | 17:2,867,202 | G/A | — | uncertain significance |
| rs746815636 | 17:2,867,213 | G/A | — | uncertain significance |
| rs199980639 | 17:2,867,232 | G/A | — | uncertain significance |
| rs1242207097 | 17:2,867,243 | T/C | — | uncertain significance |
| rs145636425 | 17:2,868,888 | G/A | — | likely benign |
| rs60380775 | 17:2,872,715 | C/T | upstream gene variant | — |
| rs7503461 | 17:2,883,320 | C/T | intron variant | — |
| rs1460890060 | 17:2,883,597 | G/A | — | uncertain significance |
| rs75798518 | 17:2,883,607 | G/A | — | benign |
| rs367931879 | 17:2,884,523 | A/G | — | uncertain significance |
| rs201656017 | 17:2,884,541 | A/G | — | uncertain significance |
| rs2544528338 | 17:2,898,656 | C/G | — | uncertain significance |
| rs567932623 | 17:2,898,719 | G/A | — | uncertain significance |
| rs1260592197 | 17:2,901,594 | T/C | — | uncertain significance |
| rs2046035971 | 17:2,901,610 | C/A | — | uncertain significance |
| rs761439874 | 17:2,901,629 | G/A | — | uncertain significance |
| rs376115625 | 17:2,908,679 | G/A | — | uncertain significance |
| rs767581023 | 17:2,908,723 | G/A | — | uncertain significance |
| rs199628910 | 17:2,909,253 | C/T | — | uncertain significance |
| rs748481508 | 17:2,909,300 | G/T | — | uncertain significance |
| rs771765452 | 17:2,909,324 | G/A | — | uncertain significance |
| rs773008500 | 17:2,911,342 | A/G | — | uncertain significance |
| rs36016465 | 17:2,911,352 | C/G | — | uncertain significance |
| rs563503874 | 17:2,911,353 | G/A | — | uncertain significance |
| rs2544591514 | 17:2,911,392 | G/T | — | uncertain significance |
| rs199936642 | 17:2,911,448 | G/C | — | benign |
| rs1394960926 | 17:2,921,364 | C/T | — | uncertain significance |
| rs769743620 | 17:2,923,790 | C/T | — | uncertain significance |
| rs375913923 | 17:2,923,844 | G/A | — | uncertain significance |
| rs766479387 | 17:2,929,672 | C/T | — | uncertain significance |
| rs774783201 | 17:2,929,673 | G/A | — | uncertain significance |
| rs377324035 | 17:2,929,708 | G/A | — | uncertain significance |
| rs776195452 | 17:2,930,248 | C/T | — | uncertain significance |
| rs1232952097 | 17:2,930,331 | G/A | — | uncertain significance |
| rs1433333972 | 17:2,934,222 | A/G | — | uncertain significance |
| rs754983165 | 17:2,934,237 | C/A | — | uncertain significance |
| rs770280991 | 17:2,934,243 | C/T | — | uncertain significance |
| rs775089025 | 17:2,934,251 | A/C | — | uncertain significance |
| rs201869060 | 17:2,934,257 | C/T | — | uncertain significance |
| rs576727576 | 17:2,934,261 | T/G | — | uncertain significance |
| rs9895098 | 17:2,938,533 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.