rs45450094
This variant is located in the PRKCSH gene.
▶ClinVar annotation
About PRKCSH
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]
View all PRKCSH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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