DNAJC6 (Auxilin) variants and mutations

DNAJC6 (also known as Auxilin) is a human protein-coding gene encoding an auxilin protein. It recruits HSC70 to clathrin-coated vesicles and promotes uncoating during synaptic-vesicle recycling. Biallelic pathogenic variants can cause severe juvenile parkinsonism with developmental and other neurologic abnormalities. This analysis covers 1,293 DNAJC6 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes Young adult-onset Parkinsonism, atypical juvenile parkinsonism, and Parkinson disease 19B, early-onset. Example DNAJC6 variants include K2E, K2R, and D3G.

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, MaveDB, LitVar.

Notable DNAJC6 variants

Examples include K2E, K2R, D3G, D3Y, D3D, D3E, S4Y, S4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.