CDK2 (Cyclin-dependent kinase 2) variants and mutations

CDK2 (also known as Cyclin-dependent kinase 2) is a human protein-coding gene encoding a cyclin-dependent kinase 2 protein. It promotes DNA-replication entry and S-phase progression through complexes with cyclins E and A. Dysregulated activity can support uncontrolled proliferation and therapy resistance in cancer, particularly when tumors bypass dependence on CDK4 and CDK6. This analysis covers 407 CDK2 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes neurodegenerative disease, Alzheimer disease, and B-cell chronic lymphocytic leukemia. Example CDK2 variants include E2D, E2E, and N3D.

Variant analysis overview

Gene: CDK2
Protein: Cyclin-dependent kinase 2
UniProt accession: P24941
Organism: Homo sapiens
Variants analyzed: 407
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 205 unspecified-consequence records; 82 synonymous variants; 91 missense variants; 14 frameshift variants; 5 splice-region variants; 5 stop-gained variants; 1 in-frame deletions; 2 substitution
Prediction scores: 328 variants have prediction scores (81% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, Alzheimer disease, B-cell chronic lymphocytic leukemia, autoimmune disorder of central nervous system, Parkinson disease, multiple sclerosis, lysosomal storage disease, breast cancer, acute myeloid leukemia, hepatocellular carcinoma, melanoma, neoplasm.

Protein structure and variant hotspots

Protein features: 1 domains; 21 binding sites; 6 post-translational modification sites.
Structural context: 381 variants have structural context.
PTM context: 8 variants overlap post-translational modification sites.

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 CDK2 variants

Examples include E2D, E2E, N3D, N3K, N3T, F4Y, F4L, Q5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

CDK2 analysis run — CDK2 (407 variants) — completed 2026-08-19