CDK12 (Cyclin-dependent kinase 12) variants and mutations

CDK12 (also known as Cyclin-dependent kinase 12) is a human protein-coding gene encoding a cyclin-dependent kinase 12 protein. It promotes transcription of long DNA-repair and genome-maintenance genes through RNA-polymerase-II phosphorylation. Loss-of-function alterations occur in prostate, ovarian, and other cancers and can create a characteristic pattern of genomic instability. This analysis covers 3,156 CDK12 variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes prostate adenocarcinoma, neurodegenerative disease, and Alzheimer disease. Example CDK12 variants include P2L, P2S, and N3K.

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 CDK12 variants

Examples include P2L, P2S, N3K, S4L, S4P, S4S, E5Q, R6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.