CCNE1 (G1/S-specific cyclin-E1) variants and mutations

CCNE1 (also known as G1/S-specific cyclin-E1) is a human protein-coding gene encoding a g1/S-specific cyclin-E1 protein. It activates CDK2 near the G1-to-S transition, promoting DNA-replication entry and centrosome duplication. Amplification or overexpression is common in high-grade serous ovarian cancer and several other tumors and can contribute to genomic instability and treatment resistance. This analysis covers 883 CCNE1 variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes neurodegenerative disease, Abnormality of the skeletal system, and urinary bladder cancer. Example CCNE1 variants include P2L, P2Q, and P2R.

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 CCNE1 variants

Examples include P2L, P2Q, P2R, P2S, P2T, P2A, P2P, R3M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.