ASAP3
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
Summary
This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs137927599 | 1:23,757,529 | G/T | — | conflicting classifications of pathogenicity |
| rs536081650 | 1:23,757,584 | G/A | — | uncertain significance |
| rs749012817 | 1:23,757,586 | G/A | — | uncertain significance |
| rs200734272 | 1:23,757,596 | G/A | — | uncertain significance |
| rs142945237 | 1:23,757,614 | C/T | — | uncertain significance |
| rs753354426 | 1:23,758,199 | C/A | — | uncertain significance |
| rs775080630 | 1:23,758,250 | A/T | — | uncertain significance |
| rs2522252987 | 1:23,758,292 | G/A | — | uncertain significance |
| rs768226542 | 1:23,758,409 | G/A | — | uncertain significance |
| rs144247660 | 1:23,759,609 | G/A | — | uncertain significance |
| rs144367386 | 1:23,759,612 | A/G | — | uncertain significance |
| rs375702551 | 1:23,759,668 | G/A | — | uncertain significance |
| rs369920126 | 1:23,759,669 | C/A | — | uncertain significance |
| rs140136454 | 1:23,759,743 | G/T | — | likely benign |
| rs1329364609 | 1:23,759,744 | C/T | — | uncertain significance |
| rs199509341 | 1:23,759,745 | C/T | — | likely benign |
| rs147016526 | 1:23,759,765 | G/T | — | uncertain significance |
| rs202006565 | 1:23,759,968 | C/T | — | uncertain significance |
| rs750016708 | 1:23,760,009 | G/A | — | uncertain significance |
| rs1640529554 | 1:23,760,136 | T/C | — | uncertain significance |
| rs1640551840 | 1:23,760,788 | C/G | — | uncertain significance |
| rs774990747 | 1:23,760,813 | C/T | — | uncertain significance |
| rs758282757 | 1:23,762,366 | G/A | — | likely benign |
| rs759935282 | 1:23,762,436 | T/A | — | uncertain significance |
| rs148195646 | 1:23,762,465 | C/T | — | uncertain significance |
| rs140530758 | 1:23,763,077 | G/A | — | uncertain significance |
| rs2522344988 | 1:23,763,422 | C/A | — | likely benign |
| rs547079352 | 1:23,763,492 | T/C | — | uncertain significance |
| rs16828486 | 1:23,763,938 | T/G | — | benign |
| rs772733929 | 1:23,765,655 | G/A | — | uncertain significance |
| rs199508833 | 1:23,765,659 | T/C | — | uncertain significance |
| rs1240975876 | 1:23,765,718 | C/T | — | uncertain significance |
| rs1077514 | 1:23,766,233 | C/T | intron variant | — |
| rs114228925 | 1:23,767,597 | G/A | — | benign |
| rs1640857200 | 1:23,767,619 | C/A | — | uncertain significance |
| rs1640858861 | 1:23,767,658 | T/C | — | uncertain significance |
| rs1481906513 | 1:23,767,663 | G/C | — | uncertain significance |
| rs764768097 | 1:23,767,691 | C/T | — | uncertain significance |
| rs762139381 | 1:23,767,701 | G/A | — | uncertain significance |
| rs1174846779 | 1:23,768,152 | T/C | — | uncertain significance |
| rs767623836 | 1:23,768,164 | G/A | — | uncertain significance |
| rs138247317 | 1:23,768,696 | G/T | — | uncertain significance |
| rs143888534 | 1:23,769,004 | T/G | — | uncertain significance |
| rs759918483 | 1:23,769,023 | G/A | — | uncertain significance |
| rs374835567 | 1:23,769,055 | G/C | — | uncertain significance |
| rs368844883 | 1:23,769,085 | C/T | — | uncertain significance |
| rs372166776 | 1:23,769,086 | G/A | — | uncertain significance |
| rs2510072 | 1:23,769,674 | A/T | — | — |
| rs1767147 | 1:23,770,516 | A/T | — | — |
| rs74062718 | 1:23,778,004 | C/G | — | benign |
| rs201194561 | 1:23,779,253 | C/G | — | uncertain significance |
| rs374686646 | 1:23,782,403 | G/A | — | uncertain significance |
| rs985873101 | 1:23,782,472 | C/T | — | uncertain significance |
| rs771999248 | 1:23,782,486 | G/A | — | uncertain significance |
| rs750796854 | 1:23,782,642 | C/G | — | uncertain significance |
| rs7551124 | 1:23,785,760 | C/A | — | — |
| rs6424109 | 1:23,787,021 | C/G | — | — |
| rs10917383 | 1:23,788,994 | A/G | intron variant | — |
| rs612177 | 1:23,792,009 | G/T | intron variant | — |
| rs61778883 | 1:23,795,177 | T/C | — | — |
| rs12729418 | 1:23,796,004 | G/A | intron variant | — |
| rs10917386 | 1:23,799,001 | C/G | — | — |
| rs1986133 | 1:23,804,917 | C/T | intron variant | — |
| rs6686497 | 1:23,810,360 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.