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CDKN2A - cyclin dependent kinase inhibitor 2A
- Synonym(s) : ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf
- Previous symbols and names : CDKN2, Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), MLM
- Type : gene with protein product
- Chromosomal location : 9p21.3
- OMIM: 600160
- HGNC: 1787
- UniProtKB: P42771
- Genatlas: CDKN2A
- Ensembl: ENSG00000147889
- IUPHAR-DB: -
- Reactome: P42771
- LOVD: CDKN2A
Diseases list
- Disease-causing germline mutation(s) in Familial atypical multiple mole melanoma syndrome
ORPHA:404560 
- Disease-causing somatic mutation(s) in Precursor B-cell acute lymphoblastic leukemia
ORPHA:99860 - Disease-causing somatic mutation(s) in Precursor T-cell acute lymphoblastic leukemia
ORPHA:99861 - Major susceptibility factor in Familial melanoma
ORPHA:618 - Major susceptibility factor in Familial pancreatic carcinoma
ORPHA:1333 - Candidate gene tested in Li-Fraumeni syndrome
ORPHA:524 - Candidate gene tested in Melanoma and neural system tumor syndrome
ORPHA:252206
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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