CASP8

caspase 8

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 composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]

Known Variants299 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2126072442	2:202,096,504	G/A	—	uncertain significance
rs3834129	2:202,097,532	—	—	—
rs527497064	2:202,098,159	A/G	—	uncertain significance
rs1576164512	2:202,098,261	A/G	—	uncertain significance
rs34609836	2:202,098,326	T/G	—	benign
rs1945936282	2:202,098,745	C/A	—	uncertain significance
rs1275984964	2:202,098,779	T/C	—	uncertain significance
rs2037815	2:202,101,715	G/A	intron variant	—
rs3769827	2:202,102,685	A/G	regulatory region variant	—
rs6704688	2:202,106,032	C/T	intron variant	—
rs6760993	2:202,110,917	G/A	intron variant	—
rs3769825	2:202,111,380	A/G	intron variant	—
rs12990906	2:202,114,624	T/C	intron variant	—
rs6736233	2:202,118,974	G/C	regulatory region variant	—
rs17860418	2:202,122,715	T/G	—	benign
rs3769824	2:202,122,956	C/T	—	benign
rs2469748489	2:202,122,984	T/G	—	likely benign
rs3769823	2:202,122,995	A/G	missense variant	benign
rs201548238	2:202,123,027	C/A	—	likely benign
rs764133648	2:202,123,046	T/A	—	likely benign
rs376887804	2:202,123,066	G/A	—	uncertain significance
rs755371396	2:202,123,090	G/C	—	likely benign
rs202238412	2:202,123,108	G/A	—	likely benign
rs3769821	2:202,123,430	C/G	—	—
rs905759639	2:202,124,190	T/C	—	uncertain significance
rs6723097	2:202,128,618	A/C	regulatory region variant	—
rs758971363	2:202,131,195	C/A	—	uncertain significance
rs895052255	2:202,131,232	A/G	—	uncertain significance
rs747412250	2:202,131,234	G/A	—	uncertain significance
rs1270676492	2:202,131,235	A/G	—	uncertain significance
rs1013532802	2:202,131,242	G/A	—	likely benign
rs1947837560	2:202,131,252	G/A	—	uncertain significance
rs1401364865	2:202,131,257	T/A	—	uncertain significance
rs779778498	2:202,131,277	A/G	—	uncertain significance
rs748943405	2:202,131,284	G/A	—	likely benign
rs368413113	2:202,131,293	C/T	—	likely benign
rs1559350009	2:202,131,300	C/T	—	uncertain significance
rs748087575	2:202,131,301	C/T	—	uncertain significance
rs772151801	2:202,131,302	G/A	—	likely benign
rs999368756	2:202,131,303	C/G	—	uncertain significance
rs138862018	2:202,131,308	G/T	—	uncertain significance
rs760545881	2:202,131,311	G/A	—	likely benign
rs771007977	2:202,131,321	A/G	—	uncertain significance
rs759793127	2:202,131,329	T/G	—	uncertain significance
rs2469935835	2:202,131,364	G/A	—	uncertain significance
rs200261147	2:202,131,368	G/C	—	uncertain significance
rs374717331	2:202,131,383	T/C	—	likely benign
rs1304411859	2:202,131,404	G/A	—	likely benign
rs2469936847	2:202,131,407	C/T	—	likely benign
rs777784105	2:202,131,411	C/T	—	pathogenic
rs770724721	2:202,131,443	C/T	—	likely benign
rs1947850713	2:202,131,453	A/G	—	uncertain significance
rs1292450812	2:202,131,460	A/G	—	uncertain significance
rs763043263	2:202,131,469	A/G	—	uncertain significance
rs374010917	2:202,131,471	A/G	—	uncertain significance
rs1447868572	2:202,131,472	G/A	—	uncertain significance
rs1415027065	2:202,131,476	A/G	—	likely benign
rs762297913	2:202,131,495	G/T	—	uncertain significance
rs1489585227	2:202,131,498	C/A	—	uncertain significance
rs2469939093	2:202,131,502	T/G	—	uncertain significance
rs1386677576	2:202,131,532	T/C	—	likely benign
rs2293554	2:202,131,587	T/G	—	benign
rs13401994	2:202,134,144	G/T	—	benign
rs1175184402	2:202,134,219	T/C	—	likely benign
rs1434045796	2:202,134,221	G/A	—	likely benign
rs1487695452	2:202,134,222	G/T	—	likely benign
rs2125202731	2:202,134,224	C/G	—	likely benign
rs574310665	2:202,134,225	C/T	—	likely benign
rs2125202817	2:202,134,227	T/C	—	likely benign
rs2470002601	2:202,134,233	G/A	—	uncertain significance
rs2470002881	2:202,134,239	C/T	—	likely benign
rs773675844	2:202,134,246	C/T	—	uncertain significance
rs368609027	2:202,134,247	G/A	—	uncertain significance
rs372378810	2:202,134,249	A/G	—	conflicting classifications of pathogenicity
rs376590303	2:202,134,259	C/A	—	uncertain significance
rs758051022	2:202,134,261	G/T	—	pathogenic
rs1198139044	2:202,134,265	C/A	—	uncertain significance
rs1559354162	2:202,134,268	A/G	—	uncertain significance
rs988514241	2:202,134,285	C/G	—	uncertain significance
rs947662363	2:202,134,294	C/A	—	uncertain significance
rs774427459	2:202,134,304	G/A	—	uncertain significance
rs534884641	2:202,134,311	C/T	—	likely benign
rs1252394250	2:202,134,313	A/G	—	uncertain significance
rs11897628	2:202,134,321	T/C	—	likely benign
rs761301334	2:202,134,324	A/G	—	uncertain significance
rs796850798	2:202,134,328	G/A	—	uncertain significance
rs373232880	2:202,134,329	G/A	—	likely pathogenic
rs763657503	2:202,134,347	T/A	—	likely benign
rs772243602	2:202,136,235	A/C	—	likely benign
rs747502933	2:202,136,239	G/A	—	uncertain significance
rs1387029323	2:202,136,244	T/C	—	uncertain significance
rs868832788	2:202,136,248	C/T	—	likely benign
rs2470046753	2:202,136,256	T/C	—	uncertain significance
rs1948245486	2:202,136,263	A/G	—	likely benign
rs1948245907	2:202,136,267	G/A	—	uncertain significance
rs17860422	2:202,136,272	C/T	—	likely benign
rs948804615	2:202,136,275	A/T	—	uncertain significance
rs1948247221	2:202,136,281	A/G	—	likely benign
rs560858360	2:202,136,290	T/C	—	likely benign
rs773845990	2:202,136,296	G/A	—	likely benign

Showing 100 of 299 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.