GANAB

glucosidase II alpha subunit

Summary

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

Known Variants322 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149726248	11:62,393,291	C/G	—	uncertain significance
rs781470089	11:62,393,292	G/A	—	uncertain significance
rs371161821	11:62,393,316	C/T	—	uncertain significance
rs976188802	11:62,393,321	T/C	—	uncertain significance
rs760261107	11:62,393,336	C/T	—	uncertain significance
rs1190900041	11:62,393,337	G/A	—	uncertain significance
rs375587198	11:62,393,353	G/C	—	likely benign
rs570095749	11:62,393,372	A/C	—	uncertain significance
rs751678133	11:62,393,382	G/A	—	likely benign
rs1442544926	11:62,393,409	T/C	—	likely benign
rs2134454930	11:62,393,545	T/C	—	uncertain significance
rs200312082	11:62,393,560	G/A	—	likely benign
rs1590789480	11:62,393,569	C/G	—	uncertain significance
rs1943361229	11:62,393,578	A/G	—	uncertain significance
rs775692598	11:62,393,590	C/T	—	uncertain significance
rs550777375	11:62,393,626	G/A	—	benign
rs763103082	11:62,393,791	G/A	—	likely benign
rs2496289858	11:62,393,796	T/G	—	likely benign
rs763584288	11:62,393,802	A/G	—	uncertain significance
rs1317789498	11:62,393,814	C/T	—	uncertain significance
rs370213372	11:62,393,840	C/T	—	likely benign
rs1210158408	11:62,393,841	G/A	—	pathogenic
rs146501208	11:62,393,843	C/T	—	conflicting classifications of pathogenicity
rs778905557	11:62,393,857	T/C	—	likely benign
rs747888174	11:62,393,859	G/T	—	uncertain significance
rs777546492	11:62,393,862	G/A	—	conflicting classifications of pathogenicity
rs114915323	11:62,393,883	G/A	—	likely benign
rs2496291378	11:62,393,915	G/A	—	pathogenic
rs376460143	11:62,393,932	T/C	—	likely benign
rs976490156	11:62,393,935	G/A	—	likely benign
rs749693061	11:62,394,035	G/C	—	likely benign
rs201513450	11:62,394,070	G/C	—	uncertain significance
rs1431014767	11:62,394,087	T/C	—	uncertain significance
rs879255643	11:62,394,105	G/A	missense variant	pathogenic
rs1565088616	11:62,394,111	G/A	—	pathogenic
rs2496294145	11:62,394,117	A/G	—	uncertain significance
rs2496294228	11:62,394,120	G/A	—	pathogenic
rs2496294484	11:62,394,134	C/G	—	uncertain significance
rs369733064	11:62,394,163	C/A	—	likely benign
rs751405998	11:62,394,168	G/A	—	conflicting classifications of pathogenicity
rs188894265	11:62,394,218	T/C	—	likely benign
rs117510149	11:62,394,297	G/C	—	likely benign
rs773955283	11:62,394,358	G/C	—	uncertain significance
rs753910059	11:62,394,376	G/T	—	conflicting classifications of pathogenicity
rs779306237	11:62,394,386	G/A	—	likely benign
rs937056702	11:62,394,395	G/T	—	conflicting classifications of pathogenicity
rs2496298549	11:62,394,417	C/A	—	likely benign
rs11231166	11:62,394,445	A/G	—	benign
rs747622584	11:62,394,539	T/C	—	uncertain significance
rs2496300362	11:62,394,540	A/G	—	uncertain significance
rs1020057727	11:62,394,543	C/G	—	uncertain significance
rs2134460249	11:62,394,549	C/T	—	uncertain significance
rs1479160135	11:62,394,554	T/G	—	uncertain significance
rs2496300874	11:62,394,575	G/C	—	uncertain significance
rs200456484	11:62,394,589	C/T	—	likely benign
rs140219733	11:62,394,590	G/A	—	uncertain significance
rs868816483	11:62,394,593	T/C	—	uncertain significance
rs765237116	11:62,394,605	T/A	—	likely benign
rs775761544	11:62,394,610	G/C	—	likely benign
rs1943437477	11:62,394,746	A/G	—	likely benign
rs775532479	11:62,394,777	A/G	—	likely benign
rs143779086	11:62,394,780	T/C	—	conflicting classifications of pathogenicity
rs774283742	11:62,394,784	T/C	—	uncertain significance
rs766901948	11:62,394,795	C/A	—	benign
rs7949030	11:62,394,881	A/G	—	benign
rs2958236	11:62,395,061	G/A	—	benign
rs56844910	11:62,395,975	G/A	—	likely benign
rs374423341	11:62,396,238	C/T	—	uncertain significance
rs772357517	11:62,396,244	A/G	—	uncertain significance
rs199956781	11:62,396,248	C/A	—	uncertain significance
rs761031709	11:62,396,254	T/C	—	uncertain significance
rs766670791	11:62,396,255	G/A	—	conflicting classifications of pathogenicity
rs754186120	11:62,396,262	C/T	—	uncertain significance
rs760131084	11:62,396,263	G/A	—	uncertain significance
rs150315103	11:62,396,266	G/A	—	uncertain significance
rs2496316533	11:62,396,311	G/A	—	likely pathogenic
rs138897700	11:62,396,315	G/A	—	likely benign
rs2496316655	11:62,396,322	G/C	—	uncertain significance
rs765000469	11:62,396,328	C/T	—	uncertain significance
rs747288829	11:62,396,340	T/C	—	uncertain significance
rs1943530071	11:62,396,380	T/C	—	uncertain significance
rs1943530340	11:62,396,390	G/T	—	likely benign
rs2134469442	11:62,396,400	C/T	—	uncertain significance
rs767196703	11:62,396,423	C/G	—	uncertain significance
rs766105881	11:62,396,438	C/T	—	uncertain significance
rs2134469700	11:62,396,444	C/A	—	likely benign
rs1565092566	11:62,396,481	T/C	—	likely pathogenic
rs2276298	11:62,396,494	G/A	—	benign
rs1565092899	11:62,396,665	C/G	—	pathogenic
rs1463523799	11:62,396,698	C/T	—	uncertain significance
rs2496320729	11:62,396,729	G/A	—	uncertain significance
rs749639506	11:62,396,732	C/G	—	uncertain significance
rs774955469	11:62,396,738	C/T	—	uncertain significance
rs879255641	11:62,396,753	—	—	pathogenic
rs770506502	11:62,396,762	C/T	—	uncertain significance
rs143163117	11:62,396,763	G/C	—	benign
rs750488672	11:62,396,784	G/A	—	likely benign
rs1565093575	11:62,397,077	G/C	—	uncertain significance
rs764362724	11:62,397,078	C/T	—	uncertain significance
rs77092080	11:62,397,079	G/A	—	benign

Showing 100 of 322 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.