CASP9
caspase 9
Summary
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs534307204 | 1:15,818,160 | G/A | — | — |
| rs1708945986 | 1:15,819,458 | G/T | — | uncertain significance |
| rs758304186 | 1:15,819,466 | C/T | — | uncertain significance |
| rs2526422707 | 1:15,819,489 | C/A | — | likely benign |
| rs372604929 | 1:15,819,492 | C/A | — | uncertain significance |
| rs554549696 | 1:15,819,502 | A/T | — | uncertain significance |
| rs884363 | 1:15,819,768 | C/A | downstream gene variant | — |
| rs139525345 | 1:15,820,393 | C/G | — | likely benign |
| rs2526431676 | 1:15,820,403 | T/C | — | uncertain significance |
| rs61738967 | 1:15,820,448 | G/T | — | benign |
| rs781459012 | 1:15,820,492 | A/C | — | uncertain significance |
| rs2020900 | 1:15,820,576 | T/A | downstream gene variant | — |
| rs372538047 | 1:15,821,794 | A/G | — | uncertain significance |
| rs1709066468 | 1:15,821,845 | C/T | — | uncertain significance |
| rs367896227 | 1:15,821,896 | G/T | — | uncertain significance |
| rs1286838324 | 1:15,821,947 | T/C | — | uncertain significance |
| rs4661636 | 1:15,823,061 | C/T | intron variant | — |
| rs6685648 | 1:15,825,195 | T/G | — | — |
| rs4646068 | 1:15,828,704 | T/C | intron variant | — |
| rs200754043 | 1:15,831,151 | G/T | — | uncertain significance |
| rs745473642 | 1:15,831,169 | C/T | — | uncertain significance |
| rs9282625 | 1:15,831,258 | A/G | — | benign |
| rs1800615 | 1:15,832,281 | C/T | intron variant | — |
| rs2308936 | 1:15,832,476 | G/A | — | benign |
| rs145320383 | 1:15,832,494 | G/A | — | likely benign |
| rs748893230 | 1:15,832,523 | C/A | — | uncertain significance |
| rs1052576 | 1:15,832,543 | T/C | missense variant | benign |
| rs943374575 | 1:15,832,545 | C/T | — | likely benign |
| rs4646038 | 1:15,833,200 | C/T | — | — |
| rs765071954 | 1:15,833,464 | C/T | — | uncertain significance |
| rs1206514740 | 1:15,833,468 | C/G | — | uncertain significance |
| rs1570848983 | 1:15,833,478 | G/A | — | likely benign |
| rs2308948 | 1:15,833,499 | G/A | — | likely benign |
| rs2308950 | 1:15,833,506 | C/T | — | benign |
| rs145118493 | 1:15,833,555 | T/C | — | likely benign |
| rs761468706 | 1:15,833,558 | T/C | — | uncertain significance |
| rs2020902 | 1:15,834,360 | A/G | splice region variant | benign |
| rs10754891 | 1:15,834,969 | A/T | — | — |
| rs10754894 | 1:15,835,234 | G/T | — | — |
| rs10754895 | 1:15,835,288 | G/T | regulatory region variant | — |
| rs2042370 | 1:15,841,742 | G/T | — | — |
| rs771847429 | 1:15,844,614 | C/T | — | likely benign |
| rs1132312 | 1:15,844,615 | A/G | — | benign |
| rs200277520 | 1:15,844,622 | C/G | — | uncertain significance |
| rs776371275 | 1:15,844,632 | T/C | — | uncertain significance |
| rs147312128 | 1:15,844,688 | C/T | — | uncertain significance |
| rs746736191 | 1:15,844,696 | C/T | — | likely benign |
| rs757092383 | 1:15,844,703 | G/A | — | uncertain significance |
| rs2308938 | 1:15,844,707 | G/C | — | benign |
| rs2308941 | 1:15,844,718 | A/G | — | benign |
| rs150928739 | 1:15,844,754 | C/T | — | uncertain significance |
| rs150342820 | 1:15,844,761 | A/T | — | uncertain significance |
| rs201284755 | 1:15,844,869 | G/A | — | uncertain significance |
| rs4233535 | 1:15,845,197 | G/C | intron variant | — |
| rs201250353 | 1:15,850,566 | G/C | — | benign |
| rs759277328 | 1:15,850,579 | C/A | — | uncertain significance |
| rs4645983 | 1:15,850,603 | G/A | — | benign |
| rs1052571 | 1:15,850,613 | G/A | — | benign |
| rs754305322 | 1:15,850,670 | A/G | — | uncertain significance |
| rs370730070 | 1:15,850,672 | G/A | — | benign |
| rs1007329678 | 1:15,850,680 | G/A | — | uncertain significance |
| rs4645981 | 1:15,851,483 | G/A | regulatory region variant | — |
| rs4645978 | 1:15,852,034 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.