CCND1 (G1/S-specific cyclin-D1) variants and mutations

CCND1 (also known as G1/S-specific cyclin-D1) is a human protein-coding gene encoding a g1/S-specific cyclin-D1 protein. It partners with CDK4 and CDK6 to phosphorylate RB-family proteins and promote progression through the G1 phase of the cell cycle. Amplification, translocation, or overexpression drives many cancers, including mantle-cell lymphoma and subsets of breast cancer. This analysis covers 1,421 CCND1 variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes breast cancer, breast carcinoma, and plasma cell myeloma. Example CCND1 variants include E2A, E2D, and E2G.

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 CCND1 variants

Examples include E2A, E2D, E2G, E2K, E2Q, H3D, H3L, H3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.