CAST

calpastatin

Summary

The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]

Known Variants186 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs924323747	5:95,998,200	A/C	—	uncertain significance
rs111620024	5:95,998,391	C/T	—	benign
rs73774357	5:95,998,472	G/A	—	benign
rs7704167	5:96,004,363	T/G	—	—
rs17086504	5:96,011,023	T/C	—	benign
rs152014	5:96,027,252	G/A	—	—
rs4869307	5:96,028,968	G/A	upstream gene variant	—
rs35015183	5:96,031,286	A/G	—	benign
rs9667	5:96,031,569	A/G	—	benign
rs562985393	5:96,031,622	T/C	—	benign
rs42859	5:96,031,827	G/T	—	benign
rs62364719	5:96,033,870	C/T	downstream gene variant	—
rs4434401	5:96,039,025	T/C	regulatory region variant	—
rs10053056	5:96,043,420	T/C	intron variant	—
rs10515243	5:96,056,359	C/G	regulatory region variant	—
rs750085988	5:96,058,338	T/C	—	likely benign
rs2532045924	5:96,058,362	C/G	—	uncertain significance
rs370121610	5:96,058,410	G/A	—	likely benign
rs151828	5:96,060,262	T/C	intron variant	—
rs17478897	5:96,062,617	C/T	—	benign
rs11135479	5:96,062,957	T/C	—	benign
rs745555802	5:96,063,193	G/C	—	uncertain significance
rs71630749	5:96,063,243	T/C	—	benign
rs34782647	5:96,063,502	A/G	—	benign
rs27531	5:96,064,633	A/C	—	benign
rs28042	5:96,064,715	A/T	—	benign
rs754516576	5:96,065,334	C/T	—	pathogenic
rs139431689	5:96,065,357	C/T	—	likely benign
rs143562077	5:96,065,359	A/T	—	uncertain significance
rs1760047816	5:96,065,375	A/G	—	likely benign
rs143929496	5:96,065,396	A/G	—	likely benign
rs786204842	5:96,065,427	A/T	stop gained	pathogenic
rs17479052	5:96,065,636	G/A	—	benign
rs74323148	5:96,065,662	C/T	—	benign
rs17400685	5:96,066,366	C/A	—	benign
rs148665023	5:96,066,492	A/G	—	benign
rs142144208	5:96,066,502	A/G	—	conflicting classifications of pathogenicity
rs374113792	5:96,066,521	G/T	—	uncertain significance
rs751155983	5:96,066,555	G/A	—	likely benign
rs17400741	5:96,066,576	C/G	—	benign
rs151904	5:96,066,652	C/T	—	benign
rs13183352	5:96,071,780	A/G	—	benign
rs78681066	5:96,071,841	A/G	—	benign
rs747279399	5:96,071,861	C/A	—	likely benign
rs1181134741	5:96,071,893	A/G	—	likely benign
rs59522190	5:96,071,908	G/T	—	benign
rs143382715	5:96,071,917	A/C	—	conflicting classifications of pathogenicity
rs766024591	5:96,071,937	C/T	—	uncertain significance
rs77185028	5:96,071,938	G/A	—	benign
rs1761614594	5:96,071,939	G/T	—	pathogenic
rs10045707	5:96,072,157	A/T	—	benign
rs2532280563	5:96,073,609	A/C	—	uncertain significance
rs542940545	5:96,073,628	A/G	—	benign
rs141181527	5:96,075,763	A/G	—	uncertain significance
rs200992534	5:96,075,832	A/G	—	likely benign
rs76096010	5:96,076,456	A/G	—	uncertain significance
rs200085642	5:96,076,486	C/T	—	conflicting classifications of pathogenicity
rs7724759	5:96,076,487	G/A	—	benign
rs140434940	5:96,076,976	A/C	—	benign
rs1244459740	5:96,076,994	A/G	—	uncertain significance
rs529588489	5:96,077,005	G/A	—	likely benign
rs191204602	5:96,077,014	C/T	—	benign
rs201361198	5:96,077,016	T/A	—	uncertain significance
rs758114747	5:96,077,020	C/T	—	likely benign
rs142658914	5:96,077,029	G/A	—	likely benign
rs200169373	5:96,077,037	C/G	—	uncertain significance
rs774410415	5:96,077,062	G/A	—	uncertain significance
rs758219350	5:96,077,182	G/A	—	likely benign
rs189484845	5:96,077,183	T/C	—	benign
rs373460314	5:96,077,228	G/T	—	uncertain significance
rs1314244377	5:96,077,274	A/G	—	uncertain significance
rs26503	5:96,078,309	G/A	—	benign
rs10515244	5:96,078,337	C/G	—	benign
rs750370423	5:96,078,340	G/T	—	likely benign
rs752771591	5:96,078,353	T/C	—	likely benign
rs150538389	5:96,078,382	C/T	—	likely benign
rs149270486	5:96,078,393	C/T	—	conflicting classifications of pathogenicity
rs577905956	5:96,078,394	G/A	—	likely benign
rs1762952205	5:96,078,412	G/A	—	likely benign
rs111386318	5:96,078,413	C/A	—	likely benign
rs139285603	5:96,078,438	G/A	—	conflicting classifications of pathogenicity
rs759499341	5:96,078,443	A/G	—	uncertain significance
rs751727064	5:96,078,455	G/A	—	uncertain significance
rs942316181	5:96,078,464	C/T	—	uncertain significance
rs78142752	5:96,078,542	C/T	—	benign
rs1559085	5:96,078,702	A/G	upstream gene variant	benign
rs26504	5:96,079,027	C/T	—	—
rs571475869	5:96,079,371	C/A	—	uncertain significance
rs57889668	5:96,080,934	C/A	—	—
rs56244028	5:96,081,825	G/T	—	benign
rs76738700	5:96,082,052	G/C	—	benign
rs112593332	5:96,082,087	T/A	—	benign
rs780325052	5:96,082,121	C/T	—	uncertain significance
rs191852480	5:96,082,125	C/T	—	uncertain significance
rs78054235	5:96,082,128	C/T	—	benign
rs772753206	5:96,082,139	T/C	—	likely benign
rs27851	5:96,082,401	C/T	—	benign
rs1369933741	5:96,083,079	C/G	—	uncertain significance
rs1262952050	5:96,083,095	A/G	—	uncertain significance
rs26345	5:96,083,338	T/C	—	benign

Showing 100 of 186 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.