NPHS1 (Nephrin) variants and mutations

NPHS1 (also known as Nephrin) is a human protein-coding gene encoding a nephrin protein. It forms a key structural and signaling component of the slit diaphragm between glomerular podocyte foot processes. Biallelic loss-of-function variants cause congenital nephrotic syndrome of the Finnish type with massive protein loss beginning early in life. This analysis covers 1,958 NPHS1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes congenital nephrotic syndrome, Finnish type, nephrotic syndrome, and dental enamel hypoplasia. Example NPHS1 variants include M1T, A2T, and A2V.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable NPHS1 variants

Examples include M1T, A2T, A2V, L3M, G4E, G4R, G4V, T5K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.