APAF1
apoptotic peptidase activating factor 1
Summary
This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs966090697 | 12:99,042,174 | A/G | — | uncertain significance |
| rs774078486 | 12:99,042,444 | T/C | — | uncertain significance |
| rs745962333 | 12:99,042,470 | G/A | — | likely benign |
| rs139951279 | 12:99,042,536 | A/C | — | uncertain significance |
| rs141352935 | 12:99,042,539 | C/T | — | uncertain significance |
| rs150823984 | 12:99,042,552 | C/T | — | uncertain significance |
| rs2548553121 | 12:99,042,558 | G/A | — | likely benign |
| rs985473565 | 12:99,043,370 | G/T | — | uncertain significance |
| rs766273568 | 12:99,052,928 | C/T | — | likely benign |
| rs1465434660 | 12:99,053,087 | C/T | — | uncertain significance |
| rs775507125 | 12:99,056,269 | G/C | — | uncertain significance |
| rs2097666844 | 12:99,056,289 | A/G | — | uncertain significance |
| rs746875464 | 12:99,056,295 | T/A | — | uncertain significance |
| rs769974597 | 12:99,056,531 | T/A | — | uncertain significance |
| rs779183383 | 12:99,056,541 | A/G | — | likely benign |
| rs1226018795 | 12:99,059,327 | A/T | — | likely benign |
| rs771635032 | 12:99,059,354 | A/G | — | uncertain significance |
| rs773574010 | 12:99,059,384 | C/T | — | uncertain significance |
| rs57171247 | 12:99,059,452 | T/C | — | benign |
| rs768162508 | 12:99,059,483 | A/G | — | uncertain significance |
| rs2548577164 | 12:99,059,495 | A/G | — | uncertain significance |
| rs1384535441 | 12:99,059,500 | C/T | — | likely benign |
| rs147249307 | 12:99,060,021 | G/A | — | likely benign |
| rs75622772 | 12:99,060,109 | A/T | — | benign |
| rs150056794 | 12:99,060,134 | A/G | — | uncertain significance |
| rs2548580241 | 12:99,061,319 | T/C | — | uncertain significance |
| rs145393515 | 12:99,061,337 | C/T | — | likely benign |
| rs369544125 | 12:99,061,352 | C/T | — | uncertain significance |
| rs1056152480 | 12:99,061,394 | A/G | — | uncertain significance |
| rs1349490636 | 12:99,061,406 | G/A | — | uncertain significance |
| rs757373827 | 12:99,064,817 | C/T | — | uncertain significance |
| rs752612461 | 12:99,065,416 | C/T | — | uncertain significance |
| rs2097680298 | 12:99,065,455 | C/A | — | uncertain significance |
| rs2153322604 | 12:99,071,253 | C/G | — | uncertain significance |
| rs73142307 | 12:99,071,283 | A/C | — | benign |
| rs749682848 | 12:99,074,156 | C/A | — | likely benign |
| rs11832663 | 12:99,076,918 | T/C | — | benign |
| rs752738676 | 12:99,080,587 | A/G | — | uncertain significance |
| rs1555218231 | 12:99,080,596 | G/A | — | uncertain significance |
| rs138526583 | 12:99,093,210 | G/A | — | benign |
| rs117235991 | 12:99,093,226 | A/C | — | benign |
| rs181546874 | 12:99,093,264 | G/C | — | uncertain significance |
| rs2548621207 | 12:99,093,288 | T/G | — | uncertain significance |
| rs143097832 | 12:99,093,302 | T/G | — | benign |
| rs777352704 | 12:99,093,317 | G/A | — | likely benign |
| rs144749677 | 12:99,093,344 | C/A | — | likely benign |
| rs2548625865 | 12:99,097,165 | C/T | — | uncertain significance |
| rs748739981 | 12:99,097,188 | C/T | — | uncertain significance |
| rs145807191 | 12:99,100,279 | C/T | — | likely benign |
| rs61757705 | 12:99,100,348 | G/A | — | uncertain significance |
| rs755943177 | 12:99,102,389 | G/A | — | likely benign |
| rs146420669 | 12:99,102,475 | G/A | — | uncertain significance |
| rs2288716 | 12:99,104,421 | T/C | intron variant | — |
| rs1244055611 | 12:99,106,100 | A/G | — | uncertain significance |
| rs2548636778 | 12:99,106,122 | T/C | — | uncertain significance |
| rs1018371388 | 12:99,106,197 | A/G | — | uncertain significance |
| rs148854272 | 12:99,106,207 | C/T | — | benign |
| rs11109579 | 12:99,108,998 | G/A | — | — |
| rs201541593 | 12:99,109,224 | A/G | — | uncertain significance |
| rs745664662 | 12:99,109,286 | G/A | — | uncertain significance |
| rs2097733798 | 12:99,109,307 | A/G | — | uncertain significance |
| rs77127123 | 12:99,109,320 | C/A | — | benign |
| rs146238655 | 12:99,116,998 | A/G | — | benign |
| rs772552908 | 12:99,117,417 | G/T | — | uncertain significance |
| rs538479133 | 12:99,117,498 | G/A | — | uncertain significance |
| rs138188210 | 12:99,119,209 | T/C | — | likely benign |
| rs2097749104 | 12:99,119,257 | G/T | — | uncertain significance |
| rs1286606399 | 12:99,119,281 | C/T | — | uncertain significance |
| rs762490601 | 12:99,119,292 | A/G | — | uncertain significance |
| rs755498688 | 12:99,120,944 | T/C | — | likely benign |
| rs1007216250 | 12:99,126,207 | G/A | — | uncertain significance |
| rs118102803 | 12:99,126,347 | T/C | — | benign |
| rs116928965 | 12:99,128,872 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.