VPS35 (Q96QK1) variants and mutations

VPS35 (also known as Q96QK1) is a human protein-coding gene encoding a vacuolar protein sorting-associated protein 35 protein. It helps retromer complexes retrieve selected cargo from endosomes for recycling to the Golgi or cell surface instead of lysosomal degradation. The p.Asp620Asn variant causes autosomal dominant Parkinson disease and links impaired endosomal trafficking to neurodegeneration. This analysis covers 846 VPS35 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Hereditary late-onset Parkinson disease, neurodegenerative disease, and Young adult-onset Parkinsonism. Example VPS35 variants include T3A, T4A, and Q5*.

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, MaveDB, LitVar.

Notable VPS35 variants

Examples include T3A, T4A, Q5*, Q6H, P8L, D10N, E11Q, E13K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.