EZH1 (Q92800) variants and mutations

EZH1 (also known as Q92800) is a human protein-coding gene encoding a histone-lysine N-methyltransferase protein. It provides H3K27 methyltransferase activity in Polycomb repressive complex 2 and helps maintain transcriptional repression, particularly in differentiated and quiescent cells. Dysregulation can influence stem-cell function and cancer biology, but strong monogenic human disease associations remain limited. This analysis covers 760 EZH1 variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes Weaver syndrome, diffuse large B-cell lymphoma, and neurodegenerative disease. Example EZH1 variants include M1?, I3M, and P4A.

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 EZH1 variants

Examples include M1?, I3M, P4A, P4S, N5I, P6H, P6S, P7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.