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Gene Symbol CDKN2A
Synonyms ARF | 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).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function CDNK2A inact mut indicates that this variant results in a loss of function of the Cdnk2a protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CDKN2A mutant indicates an unspecified mutation in the CDKN2A gene.
rearrange unknown unknown CDKN2A rearrange indicates an unspecified rearrangement of the CDKN2A gene.
A102fs frameshift loss of function - predicted CDKN2A A102fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 102 of 156, likely resulting in premature truncation of the functional protein (UniProt). A102fs has not been characterized, however, nonsense mutations downstream of A102 are inactivating (PMID: 9053859, PMID: 8668202), thus A102fs is predicted to lead to a loss of Cdkn2a protein function.
A127fs frameshift unknown CDKN2A A127fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 127 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A127fs has been identified in sequencing studies (PMID: 9808520), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
A60fs frameshift loss of function - predicted CDKN2A A60fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 60 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A60fs has not been characterized, however, nonsense mutations downstream of A60 are inactivating (PMID: 9053859, PMID: 8668202), thus A60fs is predicted to lead to a loss of Cdkn2a protein function.
A68fs frameshift loss of function - predicted CDKN2A A68fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 68 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A68fs has not been characterized, however, nonsense mutations downstream of A68 are inactivating (PMID: 9053859, PMID: 8668202), thus A68fs is predicted to lead to a loss of Cdkn2a protein function.
A76fs frameshift loss of function - predicted CDKN2A A76fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 76 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A76fs has not been characterized, however, nonsense mutations downstream of A76 are inactivating (PMID: 9053859, PMID: 8668202), thus A76fs is predicted to lead to a loss of Cdkn2a protein function.
C72fs frameshift loss of function - predicted CDKN2A C72fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 72 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). C72fs has not been characterized, however, nonsense mutations downstream of C72 are inactivating (PMID: 9053859, PMID: 8668202), thus C72fs is predicted to lead to a loss of Cdkn2a protein function.
D125fs frameshift unknown CDKN2A D125fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 125 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). D125fs has been identified in sequencing studies (PMID: 27882345, PMID: 23525077, PMID: 8637233), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
E33fs frameshift loss of function - predicted CDKN2A E33fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 33 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). E33fs has not been characterized, however, nonsense mutations downstream of E33 are inactivating (PMID: 9053859, PMID: 8668202), thus E33fs is predicted to lead to a loss of Cdkn2a protein function.
F90fs frameshift loss of function - predicted CDKN2A F90fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 90 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). P90fs has not been characterized, however, nonsense mutations downstream of F90 are inactivating (PMID: 9053859, PMID: 8668202), thus F90fs is predicted to lead to a loss of Cdkn2a protein function.
G23fs frameshift loss of function - predicted CDKN2A G23fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 23 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). G23fs has not been characterized, however, nonsense mutations downstream of G23 are inactivating (PMID: 9053859, PMID: 8668202), thus G23fs is predicted to lead to a loss of Cdkn2a protein function.
L16fs frameshift loss of function - predicted CDKN2A L16fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 16 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L16fs has not been characterized, however, nonsense mutations downstream of L16 are inactivating (PMID: 9053859, PMID: 8668202), thus, L16fs is predicted to lead to a loss of Cdkn2a protein function.
L65fs frameshift loss of function - predicted CDKN2A L65fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 65 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L65fs has not been characterized, however, due to the effects of truncation mutations downstream of L65 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
L78fs frameshift loss of function - predicted CDKN2A L78fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 78 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L78fs has not been characterized, however, nonsense mutations downstream of L78 are inactivating (PMID: 9053859, PMID: 8668202), thus L78fs is predicted to lead to a loss of Cdkn2a protein function.
M52fs frameshift loss of function - predicted CDKN2A M52fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 52 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). M52fs has not been characterized, however, nonsense mutations downstream of M52 are inactivating (PMID: 9053859, PMID: 8668202), thus, M52fs is predicted to lead to a loss of Cdkn2a protein function.
N42fs frameshift loss of function - predicted CDKN2A N42fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 42 of 156, likely resulting in premature truncation of the functional protein (UniProt). N42fs has not been characterized, however, nonsense mutations downstream of N42 are inactivating (PMID: 9053859, PMID: 8668202), thus N42fs is predicted to lead to a loss of Cdkn2a protein function.
P81fs frameshift loss of function - predicted CDKN2A P81fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 81 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). P81fs has not been characterized, however, nonsense mutations downstream of P81 are inactivating (PMID: 9053859, PMID: 8668202), thus, P81fs is predicted to lead to a loss of Cdkn2a protein function.
Q50fs frameshift loss of function - predicted CDKN2A Q50fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 50 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). Q50fs has not been characterized, however, other nonsense mutations downstream of Q50 are inactivating (PMID: 9053859, PMID: 8668202), thus Q50fs is predicted to lead to a loss of Cdkn2a protein function.
R128fs frameshift unknown CDKN2A R128fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 128 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). R128fs has been identified in the scientific literature (PMID: 12853981, PMID: 21085193), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
R58fs frameshift loss of function - predicted CDKN2A R58fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 58 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). R58fs has not been characterized, however, nonsense mutations downstream of R58 are inactivating (PMID: 9053859, PMID: 8668202), thus R58fs is predicted to lead to a loss of Cdkn2a protein function.
S56fs frameshift loss of function - predicted CDKN2A S56fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 56 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). S56fs has not been characterized, however, nonsense mutations downstream of S56 are inactivating (PMID: 9053859, PMID: 8668202), thus S56fs is predicted to lead to a loss of Cdkn2a protein function.
T77fs frameshift loss of function - predicted CDKN2A T77fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 77 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). T77fs has not been characterized, however, nonsense mutations downstream of T77 are inactivating (PMID: 9053859, PMID: 8668202), thus T77fs is predicted to lead to a loss of Cdkn2a protein function.
T79fs frameshift loss of function - predicted CDKN2A T79fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 79 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). T79fs has not been characterized, however, nonsense mutations downstream of T79 are inactivating (PMID: 9053859, PMID: 8668202), thus T79fs is predicted to lead to a loss of Cdkn2a protein function.
V106fs frameshift loss of function - predicted CDKN2A V106fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 106 of 156, likely resulting in premature truncation of the functional protein (UniProt). V106fs has not been characterized, however, nonsense mutations downstream of V106 are inactivating (PMID: 9053859, PMID: 8668202), thus V106fs is predicted to lead to a loss of Cdkn2a protein function.
V59fs frameshift loss of function - predicted CDKN2A V59fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 59 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). V59fs has not been characterized, however, due to the effects of truncation mutations downstream of V59 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
V82fs frameshift loss of function - predicted CDKN2A V82fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 82 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). V82fs has not been characterized, however, nonsense mutations downstream of V82 are inactivating (PMID: 9053859, PMID: 8668202), thus V82fs is predicted to lead to a loss of Cdkn2a protein function.
W110fs frameshift loss of function - predicted CDKN2A W110fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 110 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W110fs has not been characterized, however, nonsense mutations downstream of W110 are inactivating (PMID: 8668202), thus, W110fs is predicted to lead to a loss of Cdkn2a protein function.
W15fs frameshift loss of function - predicted CDKN2A W15fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 15 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W15fs has not been characterized, however, nonsense mutations downstream of W15 are inactivating (PMID: 9053859, PMID: 8668202), thus W15fs is predicted to lead to a loss of Cdkn2a protein function.
Y44fs frameshift loss of function - predicted CDKN2A Y44fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 44 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). Y44fs has not been characterized, however, nonsense mutations downstream of Y44 are inactivating (PMID: 9053859, PMID: 8668202), thus Y44fs is predicted to lead to a loss of Cdkn2a protein function.