CCND3 (G1/S-specific cyclin-D3) variants and mutations

CCND3 (also known as G1/S-specific cyclin-D3) is a human protein-coding gene encoding a g1/S-specific cyclin-D3 protein. It supports cell-cycle entry by activating CDK4 and CDK6 and has particular importance in lymphoid-cell proliferation. Somatic mutations and rearrangements can increase its stability or expression and contribute to B-cell malignancies. This analysis covers 772 CCND3 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes neurodegenerative disease, Burkitt lymphoma, and Abnormality of the skeletal system. Example CCND3 variants include E2G, L3V, and C5G.

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 CCND3 variants

Examples include E2G, L3V, C5G, C5S, E7A, E7D, E7K, G8D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.