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Gene Symbol CDKN2A
Synonyms ARF | CAI2 | CDK4I | CDKN2 | CMM2 | INK4 | INK4A | MLM | MTS-1 | MTS1 | P14 | P14ARF | P16 | P16-INK4A | P16INK4 | P16INK4A | P19 | P19ARF | TP16
Gene Description CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor (PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest (PMID: 23875803, PMID: 17055429, PMID: 27428416). CDKN2A germline mutations are associated with familial atypical multiple mole melanoma and somatic mutations are highest in pancreatic (PMID: 32273725), HNSCC, NSCLC, and melanoma (PMID: 27283171), and deletion of CDKN2A may be prognostic in IDH-mutant glioma (PMID: 32385699).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1029 9 9p21.3 NM_000077 Tumor suppressor (PMID: 30606230)

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A A100S no effect - predicted
CDKN2A A102fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A102V unknown
CDKN2A A109P loss of function
CDKN2A A127fs unknown
CDKN2A A127P loss of function
CDKN2A A127S unknown
CDKN2A A134T no effect - predicted
CDKN2A A143T no effect - predicted
CDKN2A A148T unknown
CDKN2A A17fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A20E unknown
CDKN2A A20G unknown
CDKN2A A20P loss of function
CDKN2A A20S no effect - predicted
CDKN2A A21P unknown
CDKN2A A21V unknown
CDKN2A A36G unknown
CDKN2A A36P loss of function
CDKN2A A36V unknown
CDKN2A A36_N39delinsD unknown
CDKN2A A57T unknown
CDKN2A A57V unknown
CDKN2A A60fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A60R loss of function
CDKN2A A60V loss of function
CDKN2A A68fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A68T unknown
CDKN2A A68V loss of function
CDKN2A A73D unknown
CDKN2A A76fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A76T unknown
CDKN2A amp no effect
CDKN2A C72* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A C72fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A C72S unknown
CDKN2A D108G unknown
CDKN2A D108H loss of function - predicted
CDKN2A D108N unknown
CDKN2A D108V unknown
CDKN2A D108Y loss of function - predicted
CDKN2A D125fs unknown
CDKN2A D125H no effect - predicted
CDKN2A D14E no effect - predicted
CDKN2A D14fs loss of function - predicted
CDKN2A D14G unknown
CDKN2A D14N unknown
CDKN2A D74A loss of function
CDKN2A D74F unknown
CDKN2A D74G unknown
CDKN2A D74H unknown
CDKN2A D74N loss of function
CDKN2A D74V unknown
CDKN2A D74Y loss of function - predicted
CDKN2A D84A loss of function
CDKN2A D84G loss of function
CDKN2A D84H loss of function
CDKN2A D84N loss of function
CDKN2A D84V loss of function
CDKN2A D84Y loss of function
CDKN2A dec exp no effect
CDKN2A del loss of function CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A del RB1 pos
CDKN2A del IDH1 mut
CDKN2A del IDH2 mut
CDKN2A del IDH1 R132H
CDKN2A del exon1-2 unknown
CDKN2A E119* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E119K unknown
CDKN2A E119Q no effect - predicted
CDKN2A E120* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E120D unknown
CDKN2A E120K unknown
CDKN2A E26D no effect - predicted
CDKN2A E27del unknown
CDKN2A E33fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E61Q unknown
CDKN2A E69* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E69fs loss of function - predicted
CDKN2A E69G unknown
CDKN2A E88* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E88Gfs*59 loss of function - predicted
CDKN2A E88K loss of function
CDKN2A F90fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A G101R no effect - predicted
CDKN2A G101V loss of function - predicted
CDKN2A G101W loss of function
CDKN2A G111D unknown
CDKN2A G111S no effect - predicted
CDKN2A G122V unknown
CDKN2A G139R no effect - predicted
CDKN2A G23A no effect - predicted
CDKN2A G23C loss of function - predicted
CDKN2A G23D loss of function
CDKN2A G23fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A G23R loss of function - predicted
CDKN2A G23S unknown
CDKN2A G23V loss of function - predicted
CDKN2A G35A loss of function
CDKN2A G35E no effect - predicted
CDKN2A G35R no effect - predicted
CDKN2A G35V loss of function
CDKN2A G35W loss of function - predicted
CDKN2A G35_A36del unknown
CDKN2A G45A unknown
CDKN2A G45fs loss of function - predicted
CDKN2A G45S unknown
CDKN2A G67R unknown
CDKN2A G67S unknown
CDKN2A G89D loss of function
CDKN2A H123Q no effect - predicted
CDKN2A H142R unknown
CDKN2A H66P loss of function
CDKN2A H66R no effect - predicted
CDKN2A H83D unknown
CDKN2A H83N loss of function - predicted
CDKN2A H83Q unknown
CDKN2A H83R unknown
CDKN2A H83Y loss of function - predicted
CDKN2A H98P loss of function
CDKN2A hypermethylation unknown
CDKN2A I49S loss of function
CDKN2A I49T loss of function
CDKN2A inact mut loss of function
CDKN2A L130Q unknown
CDKN2A L130R unknown
CDKN2A L130V unknown
CDKN2A L16fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L16P loss of function
CDKN2A L16R loss of function
CDKN2A L31R loss of function
CDKN2A L31V unknown
CDKN2A L32P loss of function
CDKN2A L32_L37del unknown
CDKN2A L62_E69del unknown
CDKN2A L63Q unknown
CDKN2A L63_P70del unknown
CDKN2A L65fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L65P unknown
CDKN2A L78fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L78Hfs*41 loss of function
CDKN2A L94P loss of function - predicted
CDKN2A L97fs loss of function - predicted
CDKN2A L97R loss of function
CDKN2A LOH unknown
CDKN2A loss loss of function CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A loss NRAS mut
CDKN2A loss NRAS Q61K
CDKN2A loss PIK3CA act mut
CDKN2A loss PIK3CA E542K PTEN loss
CDKN2A loss PIK3CA E545K PIK3CA amp
CDKN2A loss PIK3CA E542K PIK3CA amp
BRAF V600E/K CDKN2A loss RB1 pos
BRAF V600E CDKN2A loss CHEK2 dec exp RB1 pos
BRAF V600E CDKN2A loss NRAS Q61K
BRAF V600E CDKN2A loss NRAS G12V
CDKN2A M52fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A M52I unknown
CDKN2A M52L unknown
CDKN2A M52R unknown
CDKN2A M53I loss of function
CDKN2A M9T no effect - predicted
CDKN2A mutant unknown
CDKN2A mut PIK3CA mut
BRAF V600E CDKN2A mut
CDKN2A mut NRAS act mut
CDKN2A N39_N42del unknown
CDKN2A N42fs loss of function - predicted
CDKN2A N42H unknown
CDKN2A N42I unknown
CDKN2A N42K unknown
CDKN2A N42Y unknown
CDKN2A N71I loss of function
CDKN2A N71K loss of function
CDKN2A N71S loss of function
CDKN2A negative loss of function
CDKN2A over exp no effect
CDKN2A over exp SMARCB1 neg
CDKN2A P114F unknown
CDKN2A P114H unknown
CDKN2A P114L loss of function
CDKN2A P114S loss of function
CDKN2A P114T unknown
CDKN2A P11L no effect - predicted
CDKN2A P41Q no effect - predicted
CDKN2A P48L loss of function
CDKN2A P48R unknown
CDKN2A P70T unknown
CDKN2A P75S unknown
CDKN2A P81fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A P81L loss of function
CDKN2A P81S unknown
CDKN2A P81T loss of function - predicted
CDKN2A positive unknown
CDKN2A pos RB1 inact mut
CDKN2A Q50* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Q50fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Q50H unknown
CDKN2A Q50P loss of function - predicted
CDKN2A Q50R unknown
CDKN2A R112G loss of function
CDKN2A R112P unknown
CDKN2A R124C no effect - predicted
CDKN2A R124H no effect
CDKN2A R128fs unknown
CDKN2A R128P loss of function
CDKN2A R128W loss of function - predicted
CDKN2A R131C unknown
CDKN2A R138G unknown
CDKN2A R144C no effect - predicted
CDKN2A R24fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R24P loss of function
CDKN2A R24Q unknown
CDKN2A R29_A34del unknown
CDKN2A R58* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R58fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R80* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
BRAF V600E CDKN2A R80*
CDKN2A R80L loss of function - predicted
CDKN2A R80P unknown
CDKN2A R80Q unknown
CDKN2A R87L loss of function
CDKN2A R87P loss of function
CDKN2A R87W loss of function
CDKN2A R99G no effect - predicted
CDKN2A R99P loss of function - predicted
CDKN2A R99Q unknown
CDKN2A rearrange unknown
CDKN2A S12* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S12* PTEN Q245*
CDKN2A S12* PIK3CA E542K
CDKN2A S12L unknown
CDKN2A S43fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S43I unknown
CDKN2A S43Ifs*76 loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S56fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S56I loss of function
CDKN2A S56N unknown
CDKN2A T18P loss of function
CDKN2A T77fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A T77P loss of function
CDKN2A T79fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V106fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V115L unknown
CDKN2A V126D loss of function
CDKN2A V28_E33del unknown
CDKN2A V51I unknown
CDKN2A V51Sfs*2 loss of function - predicted
CDKN2A V59fs loss of function - predicted
CDKN2A V82E unknown
CDKN2A V82fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V82M unknown
CDKN2A V96Afs*22 loss of function - predicted
CDKN2A W110* loss of function CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W110fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W15* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W15fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A wild-type no effect
CDKN2A Y129* unknown
CDKN2A Y129C unknown
CDKN2A Y44* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44C unknown
CDKN2A Y44fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44Lfs*76 loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44Tfs*9 loss of function - predicted