PKD1 (Polycystin-1) variants and mutations

PKD1 (also known as Polycystin-1) is a human protein-coding gene encoding a polycystin-1 protein. Together with polycystin-2, it participates in tubular signaling, mechanosensation, and maintenance of renal epithelial architecture. Loss-of-function variants are the most common cause of autosomal dominant polycystic kidney disease. This analysis covers 7,773 PKD1 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes autosomal dominant polycystic kidney disease, cystic kidney disease, and hypertensive disorder. Example PKD1 variants include M1I, P2S, and P3R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PKD1 variants

Examples include M1I, P2S, P3R, P3T, A4P, P6L, P6S, A7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.