rs3797677
This variant is located in the MAN2A1 gene.
▶ClinVar annotation
Benign★☆☆☆
2 submitters1 publicationnot provided; Familial pancreatic carcinoma; Hepatocellular carcinoma; Cervical cancer
View on ClinVar →About MAN2A1
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
View all MAN2A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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