VCP (P55072) variants and mutations

VCP (also known as P55072) is a human protein-coding gene encoding a transitional endoplasmic reticulum ATPase protein. It uses ATP to extract ubiquitinated proteins from complexes or membranes for recycling or degradation and is central to proteostasis, ER-associated degradation, and autophagy. Dominant pathogenic variants cause multisystem proteinopathy with inclusion-body myopathy, Paget disease, frontotemporal dementia, or ALS. This analysis covers 792 VCP variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes inclusion body myopathy with Paget disease of bone and frontotemporal dementia t, frontotemporal dementia and/or amyotrophic lateral sclerosis 6, and inclusion body myopathy with Paget disease of bone and frontotemporal dementia. Example VCP variants include A2S, G4E, and G4R.

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 VCP variants

Examples include A2S, G4E, G4R, G4V, A5V, G9D, G9V, D10E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.