PRMT5 (O14744) variants and mutations

PRMT5 (also known as O14744) is a human protein-coding gene encoding a protein arginine N-methyltransferase 5 protein. It symmetrically methylates arginine residues on histones, spliceosomal proteins, and signaling factors, coordinating transcription, RNA processing, and cell growth. Many cancers depend on elevated PRMT5 activity, particularly in specific metabolic or spliceosomal contexts, making it a major therapeutic target. This analysis covers 694 PRMT5 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes neurodegenerative disease, breast cancer, and neoplasm. Example PRMT5 variants include M1?, A2V, and A3V.

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 PRMT5 variants

Examples include M1?, A2V, A3V, M4I, A5T, A5V, V6A, G7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.