NPC1 (O15118) variants and mutations

NPC1 (also known as O15118) is a human protein-coding gene encoding a NPC intracellular cholesterol transporter 1 protein. It moves cholesterol and other lipids out of late endosomes and lysosomes so they can be redistributed throughout the cell. Biallelic loss-of-function variants cause Niemann-Pick disease type C with progressive neurologic and visceral lipid-storage disease. This analysis covers 1,771 NPC1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Niemann-Pick disease, type C1, Niemann-Pick disease type C, and Niemann-Pick disease. Example NPC1 variants include M1I, M1V, and T2I.

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

Notable NPC1 variants

Examples include M1I, M1V, T2I, T2A, A3T, A3V, R4C, R4H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.