EED (Polycomb protein EED) variants and mutations

EED (also known as Polycomb protein EED) is a human protein-coding gene encoding a polycomb protein. Within Polycomb repressive complex 2, it recognizes H3K27 methylation to reinforce transcriptional silencing across chromatin. Germline pathogenic variants can cause Cohen-Gibson-like overgrowth phenotypes, while somatic alterations contribute to cancer. This analysis covers 654 EED variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes Cohen-Gibson syndrome, viral infectious disease, and smoking initiation. Example EED variants include M1?, S2A, and S2F.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable EED variants

Examples include M1?, S2A, S2F, S2P, S2T, S2Y, S2W, S2L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.