CAPN5

calpain 5

Summary

Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]

Known Variants525 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79059615	11:76,790,781	A/T	intron variant	—
rs781796599	11:76,795,940	C/T	—	uncertain significance
rs182958020	11:76,795,941	G/A	—	likely benign
rs782594005	11:76,795,945	G/A	—	uncertain significance
rs2496184652	11:76,795,950	G/A	—	likely benign
rs141606826	11:76,795,953	C/G	—	benign
rs1270133592	11:76,795,955	A/G	—	uncertain significance
rs782200952	11:76,795,960	G/A	—	uncertain significance
rs200999258	11:76,795,961	A/G	—	uncertain significance
rs34801837	11:76,795,962	C/T	—	likely benign
rs1950067692	11:76,795,968	C/T	—	likely benign
rs145287641	11:76,795,983	G/A	—	likely benign
rs149132399	11:76,795,984	C/T	—	conflicting classifications of pathogenicity
rs200227062	11:76,795,985	G/A	—	benign
rs1050323801	11:76,795,989	C/T	—	likely benign
rs746809647	11:76,795,993	C/T	—	uncertain significance
rs781837640	11:76,795,996	C/T	—	uncertain significance
rs782464684	11:76,795,997	G/A	—	uncertain significance
rs369938944	11:76,795,999	A/T	—	uncertain significance
rs1201601451	11:76,796,002	A/G	—	uncertain significance
rs1591117022	11:76,796,006	T/C	—	uncertain significance
rs2496185155	11:76,796,008	C/T	—	uncertain significance
rs538576711	11:76,796,010	C/T	—	likely benign
rs372486853	11:76,796,013	C/T	—	likely benign
rs202150535	11:76,796,014	G/A	—	uncertain significance
rs143254975	11:76,796,019	C/T	—	likely benign
rs782143332	11:76,796,021	C/T	—	uncertain significance
rs34236021	11:76,796,022	C/T	—	likely benign
rs369753017	11:76,796,025	C/T	—	likely benign
rs141871015	11:76,796,031	C/T	—	likely benign
rs374497977	11:76,796,032	G/A	—	uncertain significance
rs782469382	11:76,796,033	C/T	—	uncertain significance
rs145409406	11:76,796,034	C/T	—	likely benign
rs969046896	11:76,796,035	A/G	—	uncertain significance
rs979051144	11:76,796,039	A/G	—	uncertain significance
rs782476094	11:76,796,040	C/T	—	likely benign
rs781003018	11:76,796,041	G/A	—	uncertain significance
rs782250048	11:76,796,055	T/C	—	likely benign
rs376307716	11:76,796,061	C/T	—	uncertain significance
rs782354931	11:76,796,062	A/C	—	uncertain significance
rs200629808	11:76,796,063	C/T	—	uncertain significance
rs534369805	11:76,796,064	G/T	—	likely benign
rs576151085	11:76,796,065	C/T	—	uncertain significance
rs782029119	11:76,796,066	C/T	—	uncertain significance
rs370345478	11:76,796,067	G/A	—	likely benign
rs1950070183	11:76,796,069	G/A	—	uncertain significance
rs200603902	11:76,796,073	C/T	—	likely benign
rs782484868	11:76,796,074	G/A	—	uncertain significance
rs185836777	11:76,796,077	G/A	—	benign
rs368891933	11:76,796,082	G/A	—	likely benign
rs782508604	11:76,796,084	G/A	—	uncertain significance
rs138015917	11:76,796,087	A/G	—	uncertain significance
rs1950070679	11:76,796,088	G/T	—	uncertain significance
rs782197384	11:76,796,089	C/T	—	uncertain significance
rs142613341	11:76,796,090	G/A	—	uncertain significance
rs372612230	11:76,796,092	C/T	—	uncertain significance
rs80069522	11:76,799,001	C/T	—	benign
rs1240497570	11:76,804,709	C/T	—	likely benign
rs369081304	11:76,804,714	C/T	—	likely benign
rs782660724	11:76,804,715	G/A	—	likely benign
rs1256947358	11:76,804,722	C/T	—	likely benign
rs371863811	11:76,804,723	C/T	—	likely benign
rs572570736	11:76,804,724	G/A	—	benign
rs57014785	11:76,804,729	G/A	—	benign
rs1555036979	11:76,804,730	C/T	—	likely benign
rs2135435956	11:76,804,733	C/T	—	likely benign
rs782261995	11:76,804,736	C/T	—	likely benign
rs1333223218	11:76,804,737	G/A	—	uncertain significance
rs879952685	11:76,804,741	A/G	—	uncertain significance
rs782370432	11:76,804,742	C/A	—	uncertain significance
rs1555036987	11:76,804,743	C/G	—	uncertain significance
rs782029802	11:76,804,744	C/T	—	uncertain significance
rs1555036992	11:76,804,745	C/T	—	likely benign
rs199504989	11:76,804,747	G/A	—	uncertain significance
rs1950178158	11:76,804,748	C/T	—	likely benign
rs782739128	11:76,804,757	G/A	—	likely benign
rs139536181	11:76,804,759	A/G	—	uncertain significance
rs781891405	11:76,804,763	C/T	—	likely benign
rs2135436081	11:76,804,765	T/G	—	uncertain significance
rs2496213060	11:76,804,771	C/T	—	uncertain significance
rs149236442	11:76,804,775	C/T	—	benign
rs144453005	11:76,804,776	G/A	—	likely benign
rs782205506	11:76,804,777	A/G	—	uncertain significance
rs200482775	11:76,804,781	G/A	—	likely benign
rs2496213149	11:76,804,784	C/T	—	likely benign
rs1555037017	11:76,804,790	C/A	—	likely benign
rs782631999	11:76,804,793	G/A	—	likely benign
rs1555037025	11:76,804,807	G/C	—	uncertain significance
rs148784108	11:76,804,809	T/C	—	uncertain significance
rs201227214	11:76,804,812	G/T	—	uncertain significance
rs782133997	11:76,804,825	C/T	—	uncertain significance
rs199875193	11:76,804,826	G/A	—	likely benign
rs2496213399	11:76,804,827	T/C	—	uncertain significance
rs781834566	11:76,804,835	C/G	—	likely benign
rs1397520233	11:76,804,837	C/T	—	uncertain significance
rs782477592	11:76,804,839	C/T	—	uncertain significance
rs781896927	11:76,804,840	G/A	—	uncertain significance
rs374434959	11:76,804,846	C/T	—	uncertain significance
rs144932888	11:76,804,847	G/A	—	likely benign
rs1950179638	11:76,804,852	G/T	—	uncertain significance

Showing 100 of 525 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.