AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
Summary
The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs936895004 | 12:58,120,418 | T/C | — | uncertain significance |
| rs770047796 | 12:58,120,432 | G/A | — | uncertain significance |
| rs945379341 | 12:58,120,441 | G/C | — | uncertain significance |
| rs1015516060 | 12:58,120,544 | C/T | — | uncertain significance |
| rs773162708 | 12:58,120,783 | C/T | — | uncertain significance |
| rs2540837775 | 12:58,120,785 | T/C | — | uncertain significance |
| rs148957106 | 12:58,120,805 | G/A | — | likely benign |
| rs1351548912 | 12:58,120,895 | G/C | — | uncertain significance |
| rs374959342 | 12:58,120,932 | A/G | — | uncertain significance |
| rs759363357 | 12:58,120,953 | A/C | — | uncertain significance |
| rs776711795 | 12:58,121,210 | C/A | — | uncertain significance |
| rs2540839471 | 12:58,121,254 | T/A | — | uncertain significance |
| rs1290145013 | 12:58,121,487 | A/G | — | likely benign |
| rs1347314682 | 12:58,121,499 | T/A | — | uncertain significance |
| rs2540841546 | 12:58,121,757 | A/G | — | uncertain significance |
| rs2540841782 | 12:58,121,844 | A/G | — | uncertain significance |
| rs149262637 | 12:58,123,516 | A/G | — | likely benign |
| rs752956684 | 12:58,124,314 | T/G | — | uncertain significance |
| rs148450672 | 12:58,124,360 | G/A | — | likely benign |
| rs374744170 | 12:58,124,392 | T/C | — | uncertain significance |
| rs1308506450 | 12:58,124,666 | C/T | — | uncertain significance |
| rs1044230119 | 12:58,124,715 | C/T | — | uncertain significance |
| rs771238162 | 12:58,125,379 | C/A | — | uncertain significance |
| rs1467149606 | 12:58,125,627 | G/A | — | uncertain significance |
| rs747336749 | 12:58,125,663 | C/T | — | uncertain significance |
| rs551915207 | 12:58,126,186 | C/T | — | likely benign |
| rs17852479 | 12:58,126,234 | C/A | — | benign |
| rs746472932 | 12:58,126,247 | G/A | — | uncertain significance |
| rs769607256 | 12:58,126,271 | C/T | — | uncertain significance |
| rs2540856122 | 12:58,126,672 | G/C | — | uncertain significance |
| rs115767833 | 12:58,126,731 | C/T | — | benign |
| rs147194817 | 12:58,127,838 | C/G | — | uncertain significance |
| rs2301553 | 12:58,127,839 | C/T | — | likely benign |
| rs747185110 | 12:58,127,844 | C/T | — | uncertain significance |
| rs140547942 | 12:58,127,881 | G/A | — | uncertain significance |
| rs368433604 | 12:58,128,119 | C/G | — | uncertain significance |
| rs2540860415 | 12:58,128,146 | G/A | — | uncertain significance |
| rs41292015 | 12:58,128,166 | A/G | — | likely benign |
| rs750807919 | 12:58,128,376 | C/G | — | uncertain significance |
| rs35567553 | 12:58,128,378 | C/G | — | benign |
| rs780346883 | 12:58,128,462 | C/T | — | uncertain significance |
| rs969989188 | 12:58,130,863 | A/G | — | likely benign |
| rs542194963 | 12:58,131,052 | C/G | — | likely benign |
| rs774365995 | 12:58,131,060 | G/C | — | uncertain significance |
| rs201194295 | 12:58,131,069 | G/C | — | uncertain significance |
| rs760932415 | 12:58,131,090 | C/G | — | uncertain significance |
| rs755835605 | 12:58,131,135 | G/A | — | uncertain significance |
| rs554516694 | 12:58,131,156 | G/T | — | uncertain significance |
| rs763909715 | 12:58,131,219 | C/A | — | uncertain significance |
| rs746025504 | 12:58,131,246 | C/A | — | uncertain significance |
| rs1486200957 | 12:58,131,347 | G/A | — | uncertain significance |
| rs924477243 | 12:58,131,371 | C/T | — | uncertain significance |
| rs866100614 | 12:58,131,396 | A/G | — | uncertain significance |
| rs996446379 | 12:58,131,401 | A/T | — | uncertain significance |
| rs1297426141 | 12:58,131,423 | C/G | — | uncertain significance |
| rs748567926 | 12:58,131,429 | C/T | — | uncertain significance |
| rs760163080 | 12:58,131,544 | G/T | — | uncertain significance |
| rs768363714 | 12:58,131,545 | C/T | — | uncertain significance |
| rs932350430 | 12:58,131,643 | G/A | — | likely benign |
| rs2540870686 | 12:58,131,650 | A/T | — | uncertain significance |
| rs992635664 | 12:58,131,683 | G/T | — | uncertain significance |
| rs1404263859 | 12:58,131,702 | G/A | — | uncertain significance |
| rs1454671196 | 12:58,131,708 | G/A | — | uncertain significance |
| rs930301279 | 12:58,131,722 | G/A | — | uncertain significance |
| rs12368653 | 12:58,133,256 | G/T | — | — |
| rs143760313 | 12:58,135,698 | G/T | — | likely benign |
| rs367992903 | 12:58,135,725 | T/C | — | uncertain significance |
| rs200519529 | 12:58,135,749 | C/T | — | uncertain significance |
| rs145881416 | 12:58,135,772 | C/T | — | uncertain significance |
| rs201928942 | 12:58,135,823 | G/A | — | likely benign |
| rs113574153 | 12:58,135,833 | C/T | — | uncertain significance |
| rs148816431 | 12:58,135,850 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.