SUZ12 (Polycomb protein SUZ12) variants and mutations

SUZ12 (also known as Polycomb protein SUZ12) is a human protein-coding gene encoding a polycomb protein. Within Polycomb repressive complex 2, it helps establish H3K27 methylation-dependent gene silencing. Somatic loss or fusion events occur in several cancers, and germline pathogenic variants can cause overgrowth and neurodevelopmental syndromes. This analysis covers 886 SUZ12 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes Imagawa-Matsumoto syndrome, hereditary disease, and prostate adenocarcinoma. Example SUZ12 variants include A2E, A2S, and A2V.

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, ClinGen, MaveDB, LitVar.

Notable SUZ12 variants

Examples include A2E, A2S, A2V, A2T, A2A, P3S, P3T, P3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.