CDKN2C
Chr 1cyclin dependent kinase inhibitor 2C
Also known as: INK4C, p18, p18-INK4C
The protein is a cyclin-dependent kinase inhibitor that prevents activation of CDK4 and CDK6 kinases, thereby regulating cell cycle G1 progression and controlling cell growth. Mutations cause melanoma-pancreatic cancer syndrome with autosomal dominant inheritance, characterized by increased susceptibility to melanoma and pancreatic adenocarcinoma. The gene shows relatively low constraint to loss-of-function variants, which is consistent with its role as a tumor suppressor where heterozygous loss can contribute to cancer predisposition.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
45 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 4 | 0 | 4 |
Likely Pathogenic | 0 | 1 | 3 | 0 | 4 |
VUS | 0 | 13 | 7 | 1 | 21 |
Likely Benign | 0 | 1 | 0 | 4 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 15 | 14 | 5 | 34 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDKN2C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools