EZH2 (Q15910) variants and mutations

EZH2 (also known as Q15910) is a human protein-coding gene encoding a histone-lysine N-methyltransferase protein. It deposits repressive H3K27 trimethylation through Polycomb repressive complex 2 and thereby maintains cell-identity and developmental gene silencing. Activating variants drive some germinal-center lymphomas, while germline gain- or loss-of-function variants can cause overgrowth or developmental syndromes. This analysis covers 850 EZH2 variants and mutations. Of these, 42% have computational variant effect predictions. Disease context includes Weaver syndrome, diffuse large B-cell lymphoma, and neurodegenerative disease. Example EZH2 variants include M1?, G2C, and G2S.

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 EZH2 variants

Examples include M1?, G2C, G2S, Q3L, T4I, T4P, G5W, K6M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.