CARD8

caspase recruitment domain family member 8

Summary

The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

Known Variants305 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10418095	19:48,692,832	C/A	—	—
rs1062808	19:48,711,476	T/C	3 prime UTR variant	—
rs2513791031	19:48,714,989	T/C	—	uncertain significance
rs146880951	19:48,714,996	C/T	—	uncertain significance
rs140428405	19:48,714,997	G/A	—	likely benign
rs549570428	19:48,715,025	C/A	—	uncertain significance
rs35920934	19:48,715,032	G/C	—	likely benign
rs754800916	19:48,715,035	C/T	—	uncertain significance
rs8112588	19:48,715,036	G/C	—	uncertain significance
rs749260047	19:48,715,041	G/A	—	likely benign
rs761074966	19:48,715,079	G/T	—	uncertain significance
rs2038026621	19:48,715,085	T/C	—	uncertain significance
rs764409113	19:48,715,088	T/C	—	uncertain significance
rs149162452	19:48,715,097	C/T	—	uncertain significance
rs146657505	19:48,715,098	G/A	—	uncertain significance
rs764663963	19:48,715,105	T/C	—	likely benign
rs1345381617	19:48,715,107	C/A	—	uncertain significance
rs749876926	19:48,715,113	C/T	—	uncertain significance
rs2038043963	19:48,715,143	C/G	—	uncertain significance
rs3745718	19:48,715,153	T/C	—	benign
rs2513803011	19:48,715,158	G/A	—	uncertain significance
rs61755273	19:48,715,165	G/A	—	benign
rs780293112	19:48,715,171	C/G	—	likely benign
rs1413699040	19:48,715,190	C/A	—	uncertain significance
rs34632751	19:48,715,196	C/T	—	benign
rs141801097	19:48,715,205	C/T	—	uncertain significance
rs150504639	19:48,715,206	G/A	—	uncertain significance
rs139483339	19:48,715,207	G/A	—	likely benign
rs751317554	19:48,715,213	C/G	—	uncertain significance
rs1220155242	19:48,715,214	T/C	—	uncertain significance
rs987648875	19:48,715,221	C/T	—	uncertain significance
rs188716648	19:48,715,222	A/G	—	likely benign
rs2038064707	19:48,715,232	C/A	—	uncertain significance
rs375457501	19:48,715,238	T/C	—	likely benign
rs1017630574	19:48,718,588	T/C	—	likely benign
rs1454908680	19:48,718,599	G/A	—	uncertain significance
rs1420372169	19:48,718,611	G/A	—	uncertain significance
rs149691235	19:48,718,621	C/G	—	uncertain significance
rs1361255596	19:48,718,627	C/T	—	uncertain significance
rs376558274	19:48,718,650	G/A	—	likely benign
rs753829233	19:48,718,652	G/A	—	likely benign
rs1348247587	19:48,718,660	T/A	—	likely benign
rs374881209	19:48,722,112	T/G	—	likely benign
rs774020920	19:48,722,113	C/T	—	likely benign
rs372857065	19:48,722,114	G/A	—	benign
rs2039924056	19:48,722,126	A/C	—	uncertain significance
rs2514097285	19:48,722,141	A/G	—	likely benign
rs1384663432	19:48,722,143	T/C	—	uncertain significance
rs763961255	19:48,722,155	A/T	—	uncertain significance
rs1165246229	19:48,722,169	T/C	—	uncertain significance
rs2514100292	19:48,722,175	G/T	—	uncertain significance
rs10500299	19:48,722,180	C/T	—	benign
rs1568678740	19:48,722,186	T/A	—	uncertain significance
rs1405469914	19:48,722,195	T/A	—	uncertain significance
rs188970029	19:48,722,204	C/T	—	benign
rs369625179	19:48,722,214	T/C	—	uncertain significance
rs2514104835	19:48,722,243	A/G	—	likely benign
rs140107706	19:48,722,267	C/G	—	likely benign
rs2514106646	19:48,722,273	G/A	—	likely benign
rs2514107352	19:48,722,280	C/T	—	likely benign
rs774803669	19:48,722,282	C/T	—	likely benign
rs144179211	19:48,722,287	G/A	—	benign
rs2145766229	19:48,724,982	C/T	—	uncertain significance
rs541969712	19:48,724,986	C/A	—	likely benign
rs2040671668	19:48,724,987	C/A	—	uncertain significance
rs143813106	19:48,724,991	G/A	—	likely benign
rs758762341	19:48,724,999	T/C	—	uncertain significance
rs768128637	19:48,725,026	A/G	—	likely benign
rs61755274	19:48,725,038	A/G	—	benign
rs2514277481	19:48,725,049	G/T	—	uncertain significance
rs149003172	19:48,725,054	A/C	—	uncertain significance
rs140600610	19:48,725,055	T/C	—	uncertain significance
rs16981828	19:48,725,062	C/A	—	likely benign
rs764264265	19:48,725,063	G/A	—	uncertain significance
rs1372373147	19:48,725,073	G/A	—	likely benign
rs1490315839	19:48,725,075	C/T	—	uncertain significance
rs555715998	19:48,725,076	G/A	—	uncertain significance
rs2040694198	19:48,725,079	C/A	—	uncertain significance
rs151036070	19:48,725,082	C/G	—	benign
rs758963965	19:48,725,086	G/C	—	uncertain significance
rs752071016	19:48,725,089	G/A	—	likely benign
rs540915752	19:48,725,090	C/T	—	uncertain significance
rs140937765	19:48,725,091	G/C	—	uncertain significance
rs2514281867	19:48,725,100	C/T	—	uncertain significance
rs1323343895	19:48,725,101	A/T	—	uncertain significance
rs1253812222	19:48,725,108	A/G	—	uncertain significance
rs747806231	19:48,725,110	C/T	—	likely benign
rs1205153080	19:48,725,111	G/A	—	uncertain significance
rs2514283403	19:48,725,117	G/A	—	likely benign
rs769398386	19:48,725,120	A/G	—	likely benign
rs1001446432	19:48,725,124	G/C	—	likely benign
rs1479951316	19:48,725,125	G/A	—	likely benign
rs368750714	19:48,733,679	A/C	—	benign
rs117116337	19:48,733,690	C/T	—	uncertain significance
rs1568780068	19:48,733,701	T/C	—	likely benign
rs1394365284	19:48,733,703	G/A	—	likely benign
rs773369968	19:48,733,709	C/T	—	uncertain significance
rs774740059	19:48,733,712	C/T	—	uncertain significance
rs760059064	19:48,733,713	G/T	—	uncertain significance
rs753171247	19:48,733,715	T/C	—	likely benign

Showing 100 of 305 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.