ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Summary
This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2540197060 | 8:131,066,996 | A/G | — | uncertain significance |
| rs2540197363 | 8:131,067,042 | T/C | — | uncertain significance |
| rs754198419 | 8:131,072,826 | G/A | — | uncertain significance |
| rs140674458 | 8:131,072,855 | C/T | — | likely benign |
| rs777029351 | 8:131,072,881 | C/T | — | uncertain significance |
| rs1564913877 | 8:131,072,913 | G/C | — | uncertain significance |
| rs2540240646 | 8:131,072,949 | G/A | — | uncertain significance |
| rs200764058 | 8:131,073,150 | G/A | — | uncertain significance |
| rs2540243696 | 8:131,073,203 | G/A | — | likely benign |
| rs1383437544 | 8:131,092,171 | A/C | — | uncertain significance |
| rs6984045 | 8:131,092,413 | T/C | regulatory region variant | — |
| rs772547829 | 8:131,104,339 | C/T | — | uncertain significance |
| rs2097506829 | 8:131,104,360 | G/T | — | uncertain significance |
| rs773610272 | 8:131,104,362 | G/A | — | uncertain significance |
| rs147401049 | 8:131,124,378 | G/A | — | uncertain significance |
| rs944310937 | 8:131,124,379 | T/C | — | likely benign |
| rs766198466 | 8:131,124,492 | T/C | — | uncertain significance |
| rs539450703 | 8:131,124,504 | G/A | — | uncertain significance |
| rs146886116 | 8:131,128,940 | G/C | — | uncertain significance |
| rs151088808 | 8:131,130,429 | C/T | — | uncertain significance |
| rs141017948 | 8:131,130,462 | C/T | — | uncertain significance |
| rs762560141 | 8:131,130,781 | T/C | — | uncertain significance |
| rs150221582 | 8:131,130,788 | G/T | — | uncertain significance |
| rs1338212196 | 8:131,130,880 | T/C | — | uncertain significance |
| rs2097577615 | 8:131,140,256 | C/T | — | uncertain significance |
| rs2097577635 | 8:131,140,259 | T/C | — | uncertain significance |
| rs2540965631 | 8:131,165,007 | C/T | — | uncertain significance |
| rs113163415 | 8:131,181,271 | C/T | — | benign |
| rs11774659 | 8:131,190,336 | C/G | — | — |
| rs72722365 | 8:131,190,914 | G/C | — | — |
| rs200268356 | 8:131,193,022 | C/T | — | uncertain significance |
| rs1814302586 | 8:131,193,031 | T/C | — | uncertain significance |
| rs151281725 | 8:131,226,807 | T/A | — | uncertain significance |
| rs1017281 | 8:131,247,213 | G/T | — | — |
| rs58682635 | 8:131,270,740 | T/G | intron variant | — |
| rs4733781 | 8:131,296,767 | A/C | regulatory region variant | — |
| rs139795768 | 8:131,314,036 | T/A | intron variant | — |
| rs3057 | 8:131,329,837 | C/G | — | — |
| rs6470811 | 8:131,338,933 | G/T | intron variant | — |
| rs79894749 | 8:131,347,508 | T/C | intron variant | — |
| rs79213223 | 8:131,374,611 | G/C | regulatory region variant | — |
| rs111442735 | 8:131,375,252 | C/T | intron variant | — |
| rs559525869 | 8:131,386,737 | G/T | — | — |
| rs571444813 | 8:131,387,296 | C/T | — | — |
| rs10087287 | 8:131,407,954 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.