CDKN1A (P38936) variants and mutations

CDKN1A (also known as P38936) is a human protein-coding gene encoding a cyclin-dependent kinase inhibitor 1 protein. It inhibits cyclin-CDK complexes after DNA damage or other stress and can impose cell-cycle arrest downstream of p53. Altered p21 regulation affects senescence, DNA-damage responses, and cancer-cell sensitivity to therapy. This analysis covers 768 CDKN1A variants and mutations. Of these, 24% have computational variant effect predictions. Disease context includes neurodegenerative disease, response to statin, and ocular hypotension. Example CDKN1A variants include M1?, S2*, and S2A.

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 CDKN1A variants

Examples include M1?, S2*, S2A, S2P, S2T, S2S, E3D, E3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.