GBA2

glucosylceramidase beta 2

Summary

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

Known Variants290 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs777114371	9:35,737,172	T/G	—	likely benign
rs2490818090	9:35,737,173	G/A	—	uncertain significance
rs143456960	9:35,737,206	A/G	—	conflicting classifications of pathogenicity
rs2490818915	9:35,737,215	C/T	—	uncertain significance
rs777255160	9:35,737,232	G/A	—	likely benign
rs754527190	9:35,737,248	G/C	—	uncertain significance
rs912331543	9:35,737,249	G/T	—	uncertain significance
rs767031907	9:35,737,251	C/T	—	uncertain significance
rs1588001323	9:35,737,267	G/C	—	uncertain significance
rs2490820383	9:35,737,275	T/A	—	uncertain significance
rs1214656669	9:35,737,277	T/C	—	likely benign
rs1588001500	9:35,737,314	C/T	—	likely pathogenic
rs749211700	9:35,737,315	G/A	—	pathogenic
rs757252849	9:35,737,333	G/A	—	conflicting classifications of pathogenicity
rs775542106	9:35,737,340	T/C	—	likely benign
rs199510198	9:35,737,341	C/T	—	conflicting classifications of pathogenicity
rs1347178549	9:35,737,342	G/A	—	likely pathogenic
rs1826269168	9:35,737,352	G/A	—	likely benign
rs145866042	9:35,737,376	C/T	—	likely benign
rs762268140	9:35,737,386	C/T	—	uncertain significance
rs374335041	9:35,737,387	G/A	—	uncertain significance
rs1341442902	9:35,737,388	C/T	—	likely benign
rs138519801	9:35,737,410	C/T	—	uncertain significance
rs2490823676	9:35,737,446	T/C	—	likely pathogenic
rs570517033	9:35,737,458	T/C	—	likely benign
rs73438752	9:35,737,707	A/C	—	likely benign
rs1826314365	9:35,737,731	A/G	—	likely benign
rs1826317076	9:35,737,769	C/T	—	likely benign
rs374440648	9:35,737,772	G/A	—	likely benign
rs1163977326	9:35,737,783	C/A	—	uncertain significance
rs747616868	9:35,737,796	A/G	—	likely benign
rs1362779042	9:35,737,800	G/T	—	uncertain significance
rs778985234	9:35,737,825	C/T	—	conflicting classifications of pathogenicity
rs774411642	9:35,737,837	G/A	—	pathogenic
rs546011240	9:35,737,862	C/T	—	likely benign
rs143345363	9:35,737,883	G/A	—	likely benign
rs144531146	9:35,737,912	G/A	—	uncertain significance
rs777387371	9:35,737,919	A/G	—	likely benign
rs1008414642	9:35,737,920	T/G	—	likely pathogenic
rs774358705	9:35,737,944	G/A	—	likely benign
rs372001753	9:35,738,018	C/G	—	likely benign
rs2490837980	9:35,738,073	C/T	—	pathogenic
rs62637647	9:35,738,107	C/T	—	uncertain significance
rs202031683	9:35,738,108	G/A	—	uncertain significance
rs766699931	9:35,738,118	C/G	—	likely benign
rs201520272	9:35,738,119	C/T	—	conflicting classifications of pathogenicity
rs200894732	9:35,738,127	G/T	—	uncertain significance
rs142621039	9:35,738,146	C/T	—	conflicting classifications of pathogenicity
rs745560069	9:35,738,155	G/A	—	likely benign
rs762268946	9:35,738,220	C/T	—	likely benign
rs371770069	9:35,738,221	G/A	—	likely benign
rs373784058	9:35,738,226	C/T	—	uncertain significance
rs753292162	9:35,738,244	T/G	—	likely benign
rs1273177779	9:35,738,253	C/T	—	uncertain significance
rs113721604	9:35,738,260	G/T	—	likely benign
rs750088946	9:35,738,265	G/A	—	uncertain significance
rs757918567	9:35,738,267	C/A	—	uncertain significance
rs2490842855	9:35,738,291	T/C	—	uncertain significance
rs746728147	9:35,738,305	C/T	—	likely benign
rs1826376284	9:35,738,311	C/T	—	likely benign
rs1011987148	9:35,738,325	G/A	—	pathogenic
rs989227836	9:35,738,327	A/G	—	uncertain significance
rs202088139	9:35,738,371	A/G	—	uncertain significance
rs2490845033	9:35,738,374	G/T	—	uncertain significance
rs1554665870	9:35,738,380	G/A	—	likely benign
rs1826383976	9:35,738,383	C/T	—	likely benign
rs148315388	9:35,738,517	G/A	—	conflicting classifications of pathogenicity
rs2131951562	9:35,738,541	C/T	—	pathogenic
rs1295984812	9:35,738,546	A/G	—	likely benign
rs1301982587	9:35,738,550	T/C	—	uncertain significance
rs1313074779	9:35,738,563	C/T	—	uncertain significance
rs139510090	9:35,738,582	G/T	—	likely benign
rs542233713	9:35,738,589	T/A	—	uncertain significance
rs780389339	9:35,738,734	A/G	—	likely benign
rs781668874	9:35,738,745	T/A	—	uncertain significance
rs1563957812	9:35,738,757	C/T	—	uncertain significance
rs369401526	9:35,738,791	C/T	—	conflicting classifications of pathogenicity
rs398123012	9:35,738,808	G/A	missense variant	pathogenic
rs371925764	9:35,738,814	C/G	—	uncertain significance
rs1169051189	9:35,738,841	C/T	—	uncertain significance
rs766509602	9:35,738,848	A/G	—	conflicting classifications of pathogenicity
rs1554666059	9:35,738,876	T/C	—	uncertain significance
rs754032114	9:35,738,880	C/T	—	uncertain significance
rs563054828	9:35,738,882	C/T	—	uncertain significance
rs188152192	9:35,738,883	G/A	—	uncertain significance
rs1826437611	9:35,738,889	A/T	—	uncertain significance
rs767740677	9:35,738,987	G/A	—	likely benign
rs73438754	9:35,738,992	C/T	—	benign
rs1401792284	9:35,739,000	T/G	—	likely benign
rs2490857820	9:35,739,005	C/A	—	uncertain significance
rs1035304750	9:35,739,010	A/G	—	uncertain significance
rs398123064	9:35,739,014	C/G	missense variant	pathogenic
rs377731521	9:35,739,026	C/T	—	uncertain significance
rs551404840	9:35,739,027	G/A	—	likely benign
rs1041243651	9:35,739,033	C/T	—	likely benign
rs1588008179	9:35,739,063	C/G	—	likely benign
rs773074625	9:35,739,067	T/A	—	uncertain significance
rs754998392	9:35,739,070	C/T	—	uncertain significance
rs146085561	9:35,739,071	G/A	—	uncertain significance
rs758216604	9:35,739,073	C/T	—	uncertain significance

Showing 100 of 290 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.