CASP7
caspase 7
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. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12415607 | 10:115,438,204 | C/A | upstream gene variant | — |
| rs11196418 | 10:115,438,466 | G/A | upstream gene variant | — |
| rs7907519 | 10:115,441,683 | A/C | regulatory region variant | — |
| rs137892089 | 10:115,451,790 | C/T | — | likely benign |
| rs11555408 | 10:115,457,264 | T/G | missense variant | — |
| rs2493938830 | 10:115,457,277 | G/A | — | uncertain significance |
| rs367975864 | 10:115,457,296 | A/T | — | uncertain significance |
| rs115389257 | 10:115,457,335 | G/A | — | uncertain significance |
| rs372587822 | 10:115,457,353 | C/A | — | uncertain significance |
| rs770345595 | 10:115,457,355 | C/G | — | uncertain significance |
| rs12777332 | 10:115,458,936 | A/G | intron variant | — |
| rs3124740 | 10:115,469,625 | C/T | — | — |
| rs3127075 | 10:115,472,113 | G/A | — | — |
| rs3814231 | 10:115,481,018 | C/T | upstream gene variant | — |
| rs115183028 | 10:115,481,418 | G/A | — | uncertain significance |
| rs980466998 | 10:115,481,451 | C/T | — | uncertain significance |
| rs12416109 | 10:115,484,660 | G/A | intron variant | — |
| rs143354631 | 10:115,485,245 | G/A | — | benign |
| rs201040237 | 10:115,485,256 | G/C | — | uncertain significance |
| rs141266925 | 10:115,485,285 | C/T | — | likely benign |
| rs2494051804 | 10:115,485,295 | A/G | — | uncertain significance |
| rs187106799 | 10:115,486,079 | G/A | — | uncertain significance |
| rs375409071 | 10:115,486,107 | C/T | — | uncertain significance |
| rs12411798 | 10:115,487,493 | C/T | — | — |
| rs12771452 | 10:115,488,331 | G/A | intron variant | — |
| rs191429899 | 10:115,489,128 | C/T | — | likely benign |
| rs2227310 | 10:115,489,152 | C/G | missense variant | benign |
| rs974261027 | 10:115,489,203 | C/G | — | uncertain significance |
| rs2494073215 | 10:115,489,246 | C/G | — | uncertain significance |
| rs751802124 | 10:115,489,251 | C/G | — | uncertain significance |
| rs1853480485 | 10:115,489,252 | C/T | — | uncertain significance |
| rs61755279 | 10:115,489,254 | C/T | — | likely benign |
| rs4353229 | 10:115,489,589 | T/C | 3 prime UTR variant | — |
| rs10787498 | 10:115,489,650 | T/G | 3 prime UTR variant | — |
| rs12247479 | 10:115,490,060 | G/A | 3 prime UTR variant | — |
| rs1127687 | 10:115,490,109 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.