PRKCSH

PRKCSH beta subunit of glucosidase II

Summary

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants287 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17426435	19:11,546,269	G/A	—	benign
rs886054195	19:11,546,412	G/A	—	uncertain significance
rs369133175	19:11,546,437	G/A	—	uncertain significance
rs138496627	19:11,546,462	G/A	—	likely benign
rs45450094	19:11,546,475	C/T	—	benign
rs115820640	19:11,546,486	C/G	—	benign
rs886054196	19:11,546,500	T/C	—	uncertain significance
rs201157643	19:11,546,860	A/C	—	uncertain significance
rs1440235981	19:11,546,950	G/C	—	likely benign
rs754740617	19:11,546,953	G/A	—	likely benign
rs747755213	19:11,546,960	C/A	—	uncertain significance
rs770415439	19:11,546,974	C/T	—	likely benign
rs570440031	19:11,546,975	T/C	—	likely benign
rs545088289	19:11,546,976	G/C	—	conflicting classifications of pathogenicity
rs138449875	19:11,546,998	C/T	—	likely benign
rs773942629	19:11,547,005	G/C	—	uncertain significance
rs1259563794	19:11,547,009	C/T	—	uncertain significance
rs1160514064	19:11,547,018	G/C	—	likely pathogenic
rs375207003	19:11,547,199	G/A	—	likely benign
rs185100338	19:11,547,202	C/T	—	likely benign
rs189520103	19:11,547,203	C/G	—	benign
rs149258999	19:11,547,212	C/T	—	uncertain significance
rs778138658	19:11,547,226	T/G	—	uncertain significance
rs547919069	19:11,547,242	A/G	—	conflicting classifications of pathogenicity
rs1034713294	19:11,547,248	C/A	—	uncertain significance
rs760613333	19:11,547,253	C/A	—	uncertain significance
rs1320122994	19:11,547,254	G/A	—	uncertain significance
rs2512501756	19:11,547,263	A/G	—	uncertain significance
rs765935591	19:11,547,286	C/T	—	likely benign
rs1157935917	19:11,547,302	T/G	—	uncertain significance
rs112718886	19:11,547,306	A/G	—	likely benign
rs1969752491	19:11,547,318	A/C	—	likely pathogenic
rs1969752815	19:11,547,320	G/A	—	uncertain significance
rs73922655	19:11,547,455	A/C	—	likely benign
rs56015835	19:11,547,506	C/T	—	benign
rs145783420	19:11,548,632	G/A	—	likely benign
rs116484437	19:11,548,674	C/A	—	likely benign
rs1311063866	19:11,548,686	C/T	—	likely benign
rs747318053	19:11,548,689	C/T	—	likely benign
rs1387634588	19:11,548,701	G/C	—	likely benign
rs770906789	19:11,548,719	C/T	—	likely benign
rs2144807765	19:11,548,728	C/G	—	likely pathogenic
rs766897286	19:11,548,734	C/T	—	uncertain significance
rs2512507296	19:11,548,737	C/T	—	likely benign
rs888720637	19:11,548,749	G/T	—	uncertain significance
rs370857637	19:11,548,751	C/T	—	conflicting classifications of pathogenicity
rs1197561525	19:11,548,761	C/T	—	likely benign
rs2144807966	19:11,548,763	C/T	—	uncertain significance
rs777837737	19:11,548,779	C/T	—	likely benign
rs2512507521	19:11,548,784	G/A	—	uncertain significance
rs770817153	19:11,548,788	T/C	—	likely benign
rs774233325	19:11,548,793	G/C	—	pathogenic
rs1014759941	19:11,548,808	C/T	—	likely benign
rs756238324	19:11,548,895	C/A	—	likely pathogenic
rs778038865	19:11,548,907	C/T	—	likely benign
rs368596083	19:11,548,919	C/T	—	likely benign
rs1351089743	19:11,548,920	G/A	—	uncertain significance
rs766039060	19:11,548,922	C/T	—	likely benign
rs2512508244	19:11,548,930	G/A	—	uncertain significance
rs1352818565	19:11,548,934	G/C	—	uncertain significance
rs771831721	19:11,548,940	C/T	—	likely benign
rs746717003	19:11,548,944	A/C	—	uncertain significance
rs368750188	19:11,548,949	C/T	—	likely benign
rs776154355	19:11,548,950	G/A	—	uncertain significance
rs188406927	19:11,548,955	T/C	—	likely benign
rs200263708	19:11,552,045	C/T	—	likely benign
rs76485217	19:11,552,050	C/T	—	likely benign
rs374095752	19:11,552,051	G/A	—	likely benign
rs779781221	19:11,552,065	C/T	—	uncertain significance
rs377537927	19:11,552,066	G/A	—	uncertain significance
rs1326117882	19:11,552,076	A/G	—	likely benign
rs2512518661	19:11,552,092	A/C	—	uncertain significance
rs780423740	19:11,552,097	C/T	—	uncertain significance
rs886054197	19:11,552,108	G/T	—	uncertain significance
rs746346745	19:11,552,109	C/T	—	likely benign
rs139991238	19:11,552,120	G/A	—	conflicting classifications of pathogenicity
rs143369158	19:11,552,142	G/A	—	likely benign
rs151207349	19:11,552,158	C/T	—	conflicting classifications of pathogenicity
rs2144822186	19:11,552,168	A/G	—	likely pathogenic
rs373806462	19:11,552,183	C/T	—	likely benign
rs116174381	19:11,552,278	C/T	—	likely benign
rs115220118	19:11,552,468	G/C	—	likely benign
rs79208676	19:11,552,469	G/A	—	benign
rs115878914	19:11,553,010	C/T	—	likely benign
rs114634588	19:11,553,084	T/G	—	likely benign
rs2512521831	19:11,553,185	C/G	—	likely benign
rs188022793	19:11,553,191	G/A	—	likely benign
rs1452202532	19:11,553,213	G/T	—	pathogenic
rs2144826022	19:11,553,219	C/T	—	pathogenic
rs574172631	19:11,553,233	G/T	—	uncertain significance
rs2512521985	19:11,553,236	T/C	—	likely benign
rs370840119	19:11,553,275	G/C	—	conflicting classifications of pathogenicity
rs62638749	19:11,553,281	T/C	—	likely benign
rs760381469	19:11,553,320	G/T	—	uncertain significance
rs62131153	19:11,556,131	C/T	—	benign
rs775259637	19:11,556,232	G/T	—	uncertain significance
rs200168017	19:11,556,233	G/A	—	conflicting classifications of pathogenicity
rs765659105	19:11,556,247	G/A	—	likely benign
rs539988285	19:11,556,283	C/T	—	likely benign
rs1351041346	19:11,556,285	G/A	—	uncertain significance

Showing 100 of 287 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.