Y2379C (p.Tyr2379Cys) variant of PKD1 (Polycystin-1)
Y2379C (p.Tyr2379Cys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
Y2379C (p.Tyr2379Cys) variant details
- p.Tyr2379Cys
- UniProt VAR 011041
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Structural context available
- Cited in: Novel mutations in the duplicated region of PKD1 gene. (PMID 10854095)
- Cited in: Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated… (PMID 22508176)