CDKN1B (P46527) variants and mutations

CDKN1B (also known as P46527) is a human protein-coding gene encoding a cyclin-dependent kinase inhibitor 1B protein. It restrains cell-cycle progression by inhibiting cyclin-CDK complexes and integrates mitogenic and antiproliferative signals. Germline loss-of-function variants cause MEN4, while reduced expression or mislocalization is common in cancer. This analysis covers 924 CDKN1B variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes multiple endocrine neoplasia type 4, prostate carcinoma, and Inherited cancer-predisposing syndrome. Example CDKN1B variants include M1I, M1T, and M1V.

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, ClinGen, MaveDB, LitVar.

Notable CDKN1B variants

Examples include M1I, M1T, M1V, S2L, N3D, N3K, N3N, V4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.