CDKN1C (P49918) variants and mutations

CDKN1C (also known as P49918) is a human protein-coding gene encoding a cyclin-dependent kinase inhibitor 1C protein. It restrains embryonic and placental cell proliferation and is subject to parent-of-origin-specific genomic imprinting. Loss of maternal expression contributes to Beckwith-Wiedemann syndrome, whereas gain-of-function variants can cause growth-restriction syndromes such as IMAGe syndrome. This analysis covers 450 CDKN1C variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Beckwith-Wiedemann syndrome, IMAGe syndrome, and neurodegenerative disease. Example CDKN1C variants include M1?, M1I, and M1T.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CDKN1C variants

Examples include M1?, M1I, M1T, M1V, S2A, S2C, D3E, D3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.