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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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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A100S missense no effect - predicted CDKN2A A100S lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A100S results in cell proliferation, viability (PMID: 29533785), and cell cycle arrest similar to wild-type Cdkn2a in culture (PMID: 21462282), and therefore, is predicted to have no effect on Cdkn2a protein function.
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, due to the effects of other truncation mutations downstream of A102 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
A102V missense unknown CDKN2A A102V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A102V has been identified in the scientific literature (PMID: 9053859, PMID: 31026031, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
A109P missense loss of function CDKN2A A109P does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A109P confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
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, Oct 2024).
A127P missense loss of function CDKN2A A127P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). A127P confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
A127S missense unknown CDKN2A A127S lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). A127S results in decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), but binding to Cdk4/6 and induction of growth arrest similar to wild-type Cdkn2a in culture (PMID: 10498896), and therefore, its effect on Cdkn2a protein function is unknown.
A134T missense no effect - predicted CDKN2A A134T lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). A134T results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
A143T missense no effect - predicted CDKN2A A143T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A143T results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868) and suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, is predicted to have no effect on Cdkn2a protein function.
A148T missense unknown CDKN2A A148T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A148T results in inhibition of cell growth and binding to Cdk4 and Cdk6 similar to wild-type Cdkn2a (PMID: 10389768) and results in Cdk4 and Rb phosphorylation similar to wild-type Cdkn2a but decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown.
A17fs frameshift loss of function - predicted CDKN2A A17fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 17 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). A17fs has not been characterized, however, due to the effects of other truncation mutations downstream of A17 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
A20E missense unknown CDKN2A A20E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20E has been identified in sequencing studies (PMID: 8589032), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
A20G missense unknown CDKN2A A20G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20G impairs the ability of Cdkn2a to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
A20P missense loss of function CDKN2A A20P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20P confers a loss of function to the Cdkn2a protein as demonstrated by a reduction in Cdk4 inhibitory activity (PMID: 19110720), reduced Cdk4/6 binding, failure to inhibit phosphorylation of Rb, and failure to inhibit proliferation in cultured cells (PMID: 10498896).
A20S missense no effect - predicted CDKN2A A20S lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20S results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
A21P missense unknown CDKN2A A21P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A21P has been identified in the scientific literature (PMID: 27415609, PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
A21V missense unknown CDKN2A A21V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A21V suppresses IL3-independent growth similar to wild-type Cdkn2a in the context of BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
A36G missense unknown CDKN2A A36G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36G has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
A36P missense loss of function CDKN2A A36P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36P confers a loss of function to the Cdkn2a protein as demonstrated by the inability to suppress reactive oxygen species formation (PMID: 23190892), altered cellular localization and loss of Cdk4/6 binding in a two-hybrid assay (PMID: 20340136).
A36V missense unknown CDKN2A A36V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36V results in decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
A36_N39delinsD indel unknown CDKN2A A36_N39delinsD results in the deletion of four amino acids in ANK repeat 1 of the Cdkn2a protein from aa 36 to aa 39, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). A36_N39delinsD has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
A57T missense unknown CDKN2A A57T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A57T has been identified in sequencing studies (PMID: 27077911, PMID: 25530832, PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
A57V missense unknown CDKN2A A57V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A57V results in a partial loss of Cdk4 binding but supports cell proliferation levels similar to wild-type Cdkn2a in culture (PMID: 19260062), demonstrates impaired ability to regulate oxidative stress and altered cell cycle distribution (PMID: 23190892), and suppresses BRC-ABL1-mediated transformation and phosphorylation of Rb and Cdk4 similar to wild-type protein in cell culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown.
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, due to the effects of other truncation mutations downstream of A60 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
A60R missense loss of function CDKN2A A60R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A60R confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 and Cdk6 binding, and aberrant proliferation of cells in culture (PMID: 19260062, PMID: 20340136).
A60V missense loss of function CDKN2A A60V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A60V confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 binding, and aberrant proliferation of cells in culture (PMID: 19260062).
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, due to the effects of other truncation mutations downstream of A68 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
A68T missense unknown CDKN2A A68T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A68T results in decreased binding to Cdk4 and altered subcellular localization of Cdkn2a, but induces cell-cycle arrest similar to wild-type Cdkn2a in culture (PMID: 11518711, PMID: 18990760), and induced similar cell proliferation and cell viability as wild-type protein in one of two cell lines (PMID: 29533785), and therefore, its effect on Cdkn2a protein function is unknown.
A68V missense loss of function CDKN2A A68V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A68V confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
A73D missense unknown CDKN2A A73D does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A73D has been identified in sequencing studies (PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
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, due to the effects of other truncation mutations downstream of A76 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
A76T missense unknown CDKN2A A76T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 31004019, PMID: 26164066, PMID: 34915860), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
amp none no effect CDKN2A amplification indicates an increased number of copies of the CDKN2A gene. However, the mechanism causing the increase is unspecified.
C72* nonsense loss of function - predicted CDKN2A C72* results in a premature truncation of the Cdkn2a protein at amino acid 72 of 156 (UniProt.org). C72* has not been characterized, however, due to the effects of other truncation mutations downstream of C72 (PMID: 9053859, PMID: 8668202), 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, due to the effects of other truncation mutations downstream of C72 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
C72S missense unknown CDKN2A C72S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). C72S results in reduced formation of amyloid fibrils under oxidizing conditions compared to wild-type Cdkn2a in an in vitro assay (PMID: 31539802, PMID: 38951545) and inhibits Cdkn2a dimerization and amyloid aggregation in an in vitro assay and in cell culture (PMID: 38951545), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
D108G missense unknown CDKN2A D108G does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108G has been identified in the scientific literature (PMID: 23770606, PMID: 26873401, PMID: 33441293), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
D108H missense loss of function - predicted CDKN2A D108H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108H is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of cell cycle control (PMID: 12606942).
D108N missense unknown CDKN2A D108N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108N results in reduced stability of Cdkn2a protein and partially reduced ability to displace CDK4, but displaces Cdc37 from CDK6 to similar levels of wild-type Cdkn2a (PMID: 29091774), and therefore, its effect on Cdkn2a protein function is unknown.
D108V missense unknown CDKN2A D108V does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108V has been identified in sequencing studies (PMID: 29301828, PMID: 26919633, PMID: 35620707), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
D108Y missense loss of function - predicted CDKN2A D108Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108Y is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of cell cycle control (PMID: 12606942).
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, Jul 2024).
D125H missense no effect - predicted CDKN2A D125H lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). D125H results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
D14E missense no effect - predicted CDKN2A D14E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14E results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
D14fs frameshift loss of function - predicted CDKN2A D14fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 14 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). D14fs has not been characterized, however, due to the effects of other truncation mutations downstream of D14 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
D14G missense unknown CDKN2A D14G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14G has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
D14N missense unknown CDKN2A D14N lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14N has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
D74A missense loss of function CDKN2A D74A does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74A confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
D74F missense unknown CDKN2A D74F does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74F has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
D74G missense unknown CDKN2A D74G does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74G has been identified in the scientific literature (PMID: 30423298), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
D74H missense unknown CDKN2A D74H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74H retains the ability to inhibit proliferation and cell cycle progression (PMID: 35001868), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
D74N missense loss of function CDKN2A D74N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74N results in a reduction in Cdk kinase inhibition in an in vitro assay and reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434).
D74V missense unknown CDKN2A D74V does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74V has been identified in sequencing studies (PMID: 29625247, PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
D74Y missense loss of function - predicted CDKN2A D74Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74Y is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk4 binding in culture (PMID: 19260062).
D84A missense loss of function CDKN2A D84A lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84A confers a loss of function to Cdkn2a as demonstrated by failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868).
D84G missense loss of function CDKN2A D84G lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84G confers a loss of function to the Cdkn2a protein as demonstrated by a loss of Cdk binding, defective kinase inhibition, and aberrant proliferation of cells in culture (PMID: 10491434).
D84H missense loss of function CDKN2A D84H lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84H confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896).
D84N missense loss of function CDKN2A D84N lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84N confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896).
D84V missense loss of function CDKN2A D84V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84V confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896, PMID: 10491434).
D84Y missense loss of function CDKN2A D84Y lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84Y confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896).
dec exp none no effect CDKN2A dec exp indicates decreased expression of the Cdkn2a protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function CDKN2A del indicates a deletion of the CDKN2A gene.
del exon1-2 deletion unknown CDKN2A del exon1-2 indicates the deletion of exons 1-2 of the CDKN2A gene.
E119* nonsense loss of function - predicted CDKN2A E119* results in a premature truncation of the Cdkn2a protein at amino acid 119 of 156 (UniProt.org). E119* has not been characterized, however, due to the effects of other truncation mutations downstream of E119 (PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
E119K missense unknown CDKN2A E119K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119K has been identified in the scientific literature (PMID: 37649695), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
E119Q missense no effect - predicted CDKN2A E119Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119Q results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
E120* nonsense loss of function - predicted CDKN2A E120* results in a premature truncation of the Cdkn2a protein at amino acid 120 of 156 (UniProt.org). E120* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of Cdk binding in an in vitro assay (PMID: 8668202).
E120D missense unknown CDKN2A E120D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E120D has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
E120K missense unknown CDKN2A E120K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E120K has been identified in the scientific literature (PMID: 21462282), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
E26D missense no effect - predicted CDKN2A E26D lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). E26D results in Cdk4/6 binding and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibits Cdk6 activity similar to wild-type protein in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
E27del deletion unknown CDKN2A E27del results in the deletion of an amino acid in ANK repeat 1 of the Cdkn2a protein at amino acid 27 (UniProt.org). E27del has been identified in sequencing studies (PMID: 33635883), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
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, due to the effects of other truncation mutations downstream of E33 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
E61Q missense unknown CDKN2A E61Q lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). E61Q has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
E69* nonsense loss of function - predicted CDKN2A E69* results in a premature truncation of the Cdkn2a protein at amino acid 69 of 156 (UniProt.org). E69* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
E69fs frameshift loss of function - predicted CDKN2A E69fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 69 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). E69fs has not been characterized, however, due to the effects of other truncation mutations downstream of E69 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
E69G missense unknown CDKN2A E69G lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). The functional effect of E69G is conflicting as it results in loss of Cdk4 and Cdk6 binding and aberrant proliferation of cells in culture (PMID: 19260062, PMID: 20340136), but inhibits proliferation and cell cycle progression to similar levels of wild-type protein in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
E88* nonsense loss of function - predicted CDKN2A E88* results in a premature truncation of the Cdkn2a protein at amino acid 88 of 156 (UniProt.org). E88* has not been characterized, however, due to the effects of other truncation mutations downstream of E88 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
E88Gfs*59 frameshift loss of function - predicted CDKN2A E88Gfs*59 indicates a shift in the reading frame starting at amino acid 88 and terminating 59 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). E88Gfs*59 has not been characterized, however, due to the effects of other truncation mutations downstream of E88 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
E88K missense loss of function CDKN2A E88K lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). E88K confers a loss of function to the Cdkn2a protein as demonstrated by loss of inhibitory binding to Cdk4 and Cdk6 (PMID: 10498896).
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). F90fs has not been characterized, however, due to the effects of other truncation mutations downstream of F90 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
G101R missense no effect - predicted CDKN2A G101R lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). G101R results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
G101V missense loss of function - predicted CDKN2A G101V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). G101V results in reduced cell cycle arrest activity in an in vitro assay (PMID: 21462282), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
G101W missense loss of function CDKN2A G101W lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). G101W confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 binding (PMID: 19260062, PMID: 20340136) and failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 19260062, PMID: 20340136, PMID: 35001868).
G111D missense unknown CDKN2A G111D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G111D has been identified in sequencing studies (PMID: 22991414, PMID: 8747595), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
G111S missense no effect - predicted CDKN2A G111S lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G111S results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
G122V missense unknown CDKN2A G122V lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G122V results in Cdk6 binding similar to wild-type Cdkn2a but decreased binding to Cdk4 in in vitro assays, and decreased inhibition of proliferation in cultured cells in one study (PMID: 10951521), but retains the ability to inhibit proliferation and cell cycle progression in culture in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
G139R missense no effect - predicted CDKN2A G139R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G139R results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
G23A missense no effect - predicted CDKN2A G23A lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G23A results in growth inhibition similar to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to have no effect on Cdkn2a protein function.
G23C missense loss of function - predicted CDKN2A G23C lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G23C results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
G23D missense loss of function CDKN2A G23D lies within the first ANK repeat of the Cdkn2a protein (UniProt.org). G23D results in a loss of Cdkn2a protein function, evidenced by loss of CDK4 binding, reduced inhibition of pRb phosphorylation, and impaired cell cycle arrest in cultured cells (PMID: 19712690, PMID: 19260062).
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, due to the effects of other truncation mutations downstream of G23 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
G23R missense loss of function - predicted CDKN2A G23R lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G23R results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
G23S missense unknown CDKN2A G23S lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). G23S results in intermediate loss of growth inhibition compared to wild-type Cdkn2a in cell culture (PMID: 24659262), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
G23V missense loss of function - predicted CDKN2A G23V lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G23V results in a loss of growth inhibition compared to wild-type Cdkn2a protein in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
G35A missense loss of function CDKN2A G35A lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). G35A confers a loss of function to the Cdkn2a protein, as demonstrated by a partial loss of Cdk4 binding and aberrant proliferation of cells in culture (PMID: 19260062).
G35E missense no effect - predicted CDKN2A G35E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). G35E results in growth inhibition similar to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to have no effect on Cdkn2a protein function.
G35R missense no effect - predicted CDKN2A G35R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). G35R results in growth inhibition similar to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to have no effect on Cdkn2a protein function.
G35V missense loss of function CDKN2A G35V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). G35V confers a loss of function to the Cdkn2a protein as demonstrated by a loss of Cdk4 binding, and aberrant proliferation of cells in culture (PMID: 19260062).
G35W missense loss of function - predicted CDKN2A G35W lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G35W results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
G35_A36del deletion unknown CDKN2A G35_A36del results in the deletion of two amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 35 to 36 (UniProt.org). G35_A36del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
G45A missense unknown CDKN2A G45A lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G45A suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
G45fs frameshift loss of function - predicted CDKN2A G45fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 45 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). G45fs has not been characterized, however, due to the effects of other truncation mutations downstream of G45 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
G45S missense unknown CDKN2A G45S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G45S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
G67R missense unknown CDKN2A G67R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). The functional effect of G67R is conflicting as it results in partial loss of Cdk4 binding and impaired growth inhibition in one study (PMID: 19260062), but inhibits proliferation and cell cycle progression to similar levels of wild-type protein in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
G67S missense unknown CDKN2A G67S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G67S demonstrates reduced binding to Cdk proteins, but is still capable of inducing G1 arrest in cultured cells (PMID: 11518711, PMID: 20340136), and therefore, its effect on Cdkn2a protein function is unknown.
G89D missense loss of function CDKN2A G89D lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). G89D confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
H123Q missense no effect - predicted CDKN2A H123Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). H123Q results in similar cell proliferation and viability levels as wild-type Cdkn2a in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Cdkn2a protein function.
H142R missense unknown CDKN2A H142R does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). H142R results in Cdk4 and Rb phosphorylation similar to wild-type Cdkn2a but decreased suppression of IL3-independent growth of BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown.
H66P missense loss of function CDKN2A H66P lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). H66P confers a loss of function to Cdkn2a as demonstrated by failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868).
H66R missense no effect - predicted CDKN2A H66R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). H66R results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
H83D missense unknown CDKN2A H83D lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83D has been identified in the scientific literature (PMID: 30430578, PMID: 35135829, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
H83N missense loss of function - predicted CDKN2A H83N lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83N results in decreased inhibition of Cdk4 kinase activity in an in vitro assay (PMID: 9660926), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
H83Q missense unknown CDKN2A H83Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Q has been identified in sequencing studies (PMID: 28506684, PMID: 12117769), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
H83R missense unknown CDKN2A H83R lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83R has been identified in sequencing studies (PMID: 25456132, PMID: 35700150, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
H83Y missense loss of function - predicted CDKN2A H83Y lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Y results in Cdk4/6 binding and Cdk6 kinase inhibition similar to wild-type Cdkn2a, but decreased ability to induce cell cycle arrest (PMID: 10491434), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
H98P missense loss of function CDKN2A H98P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H98P results in decreased inhibition of cell-cycle arrest and cyclin-D1/Cdk4 kinase activity by Cdkn2a in cell culture (PMID: 7777061).
hypermethylation unknown unknown CDKN2A hypermethylation indicates an increased methylation of the CDKN2A gene. However, the mechanism causing the hypermethylation is unspecified.
I49S missense loss of function CDKN2A I49S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). I49S confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
I49T missense loss of function CDKN2A I49T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). I49T retains Cdk4/6 binding ability in cultured cells but confers a loss of function to Cdkn2a as demonstrated by altered subcellular localization (PMID: 10389768) and failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868, PMID: 10389768).
inact mut unknown loss of function CDKN2A inact mut indicates that this variant results in a loss of function of the Cdkn2a protein. However, the specific amino acid change has not been identified.
L130Q missense unknown CDKN2A L130Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130Q has been identified in the scientific literature (PMID: 35392854), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
L130R missense unknown CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 25303977, PMID: 22156295), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
L130V missense unknown CDKN2A L130V lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130V has been identified in sequencing studies (PMID: 21462282), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
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, due to the effects of other truncation mutations downstream of L16 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
L16P missense loss of function CDKN2A L16P lies within ANK repeat 1 the Cdkn2a protein (UniProt.org). L16P confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
L16R missense loss of function CDKN2A L16R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L16R confers a loss of function to Cdkn2a as demonstrated by loss of Cdk4 and Cdk6 binding, failure to inhibit cell cycle progression (PMID: 33823155, PMID: 35001868) and proliferation (PMID: 35001868) in culture.
L31R missense loss of function CDKN2A L31R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31R confers a loss of function to the Cdkn2a protein as demonstrated by the inability to inhibit kinase activity of the Cdk7 complex in culture (PMID: 11003668).
L31V missense unknown CDKN2A L31V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31V has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
L32P missense loss of function CDKN2A L32P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L32P confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
L32_L37del deletion unknown CDKN2A L32_L37del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 32 to 37 (UniProt.org). L32_L37del has been identified in the scientific literature (PMID: 33050356), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
L62_E69del deletion unknown CDKN2A L62_E69del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 62 to 69 (UniProt.org). L62_E69del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
L63Q missense unknown CDKN2A L63Q lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). L63Q has been identified in sequencing studies (PMID: 32704002), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
L63_P70del deletion unknown CDKN2A L63_P70del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 63 to 70 (UniProt.org). L63_P70del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
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 other truncation mutations downstream of L65 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
L65P missense unknown CDKN2A L65P lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). L65P results in reduced binding to CDK4 (PMID: 15235029), decreased proliferation and cell cycle inhibition in culture in one study (PMID: 35001868), but retains the ability to inhibit cell proliferation in another study (PMID: 24659262), and therefore, its effect on Cdkn2a protein function is unknown.
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, due to the effects of other truncation mutations downstream of L78 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
L78Hfs*41 frameshift loss of function CDKN2A L78Hfs*41 indicates a shift in the reading frame starting at amino acid 78 and terminating 41 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). L78Hfs*41 confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 29533785, PMID: 35001868).
L94P missense loss of function - predicted CDKN2A L94P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). L94P results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
L97fs frameshift loss of function - predicted CDKN2A L97fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 97 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). L97fs has not been characterized, however, due to the effects of other truncation mutations downstream of L97 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
L97R missense loss of function CDKN2A L97R lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). L97R confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 19260062, PMID: 20340136).
LOH deletion unknown CDKN2A LOH indicates the loss of one parental copy of the CDKN2A gene, resulting in loss of heterozygosity.
loss unknown loss of function CDKN2A loss indicates loss of the CDKN2A gene, mRNA and protein.
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, due to the effects of other truncation mutations downstream of M52 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
M52I missense unknown CDKN2A M52I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52I has been identified in sequencing studies (PMID: 19593635), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2023).
M52L missense unknown CDKN2A M52L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52L has been identified in sequencing studies (PMID: 29970484, PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
M52R missense unknown CDKN2A M52R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52R has been identified in sequencing studies (PMID: 25846456), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
M53I missense loss of function CDKN2A M53I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M53I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization and loss of binding to Cdk4 in cell culture (PMID: 19260062, PMID: 20340136), and decreased inhibition of proliferation in culture (PMID: 35001868).
M9T missense no effect - predicted CDKN2A M9T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). M9T results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
mutant unknown unknown CDKN2A mutant indicates an unspecified mutation in the CDKN2A gene.
N39_N42del deletion unknown CDKN2A N39_N42del results in the deletion of four amino acids of the Cdkn2a protein from amino acids 39 to 42 (UniProt.org). N39_N42del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
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.org). N42fs has not been characterized, however, due to the effects of other truncation mutations downstream of N42 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
N42H missense unknown CDKN2A N42H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42H has been identified in sequencing studies (PMID: 29615459, PMID: 24436120), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
N42I missense unknown CDKN2A N42I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42I has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
N42K missense unknown CDKN2A N42K does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42K has been identified in the scientific literature (PMID: 31741767), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
N42Y missense unknown CDKN2A N42Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42Y has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
N71I missense loss of function CDKN2A N71I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
N71K missense loss of function CDKN2A N71K lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71K confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
N71S missense loss of function CDKN2A N71S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71S confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, reduced binding to Cdk4 and Cdk6, and a reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434, PMID: 20340136).
negative unknown loss of function CDKN2A negative indicates a lack of expression of the CDKN2A mRNA and/or protein.
over exp none no effect CDKN2A over exp indicates an over expression of the Cdkn2a protein. However, the mechanism causing the over expression is unspecified.
P114F missense unknown CDKN2A P114F lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114F has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
P114H missense unknown CDKN2A P114H lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114H has been identified in the scientific literature (PMID: 15195137, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
P114L missense loss of function CDKN2A P114L lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114L confers a loss of function to the Cdkn2a protein as demonstrated by inability to suppress Rb phosphorylation and loss of cell cycle control (PMID: 9053859).
P114S missense loss of function CDKN2A P114S lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114S confers a loss of function to the Cdkn2a protein as demonstrated by a loss of Cdk4 binding, and aberrant proliferation of cells in culture (PMID: 19260062).
P114T missense unknown CDKN2A P114T lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114T has been identified in sequencing studies (PMID: 29026114), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
P11L missense no effect - predicted CDKN2A P11L lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). P11L results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
P41Q missense no effect - predicted CDKN2A P41Q does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). P41Q results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
P48L missense loss of function CDKN2A P48L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48L confers a loss of function to the Cdkn2a protein as demonstrated by loss of cell cycle control (PMID: 10491434), and decreased Cdk4/6 binding (PMID: 10498896).
P48R missense unknown CDKN2A P48R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48R has been identified in sequencing studies (PMID: 26336083, PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
P70T missense unknown CDKN2A P70T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P70T has been identified in sequencing studies (PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
P75S missense unknown CDKN2A P75S does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). P75S has been identified in the scientific literature (PMID: 30709382, PMID: 36995892), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
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, due to the effects of other truncation mutations downstream of P81 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
P81L missense loss of function CDKN2A P81L lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81L confers a loss of function to the Cdkn2a protein as demonstrated by a reduction in Cdk4 and Cdk6 binding as well as loss of cell cycle control (PMID: 10389768).
P81S missense unknown CDKN2A P81S lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81S has been identified in sequencing studies (PMID: 29489023, PMID: 27844328, PMID: 23851445), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
P81T missense loss of function - predicted CDKN2A P81T lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81T is predicted to lead to a loss of Cdkn2a protein function as demonstrated by reduced ability to suppress reactive oxygen species (ROS) activity and regulate the cell cycle in cultured cells (PMID: 23190892).
positive unknown unknown CDKN2A positive indicates the presence of the CDKN2A gene, mRNA, and/or protein.
Q50* nonsense loss of function - predicted CDKN2A Q50* results in a premature truncation of the Cdkn2a protein at amino acid 50 of 156 (UniProt.org). Q50* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
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, due to the effects of other truncation mutations downstream of Q50 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Q50H missense unknown CDKN2A Q50H lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50H has been identified in sequencing studies (PMID: 30325992; PMID: 26076459, PMID: 38961426), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
Q50P missense loss of function - predicted CDKN2A Q50P lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50P is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of binding to Cdk4 in a yeast assay (PMID: 14508519).
Q50R missense unknown CDKN2A Q50R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50R has been identified in the scientific literature (PMID: 29464027, PMID: 11477665), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
R112G missense loss of function CDKN2A R112G lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R112G confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
R112P missense unknown CDKN2A R112P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R112P has been identified in sequencing studies (PMID: 29279705, PMID: 8895759), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
R124C missense no effect - predicted CDKN2A R124C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R124C results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
R124H missense no effect CDKN2A R124H lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R124H has been reported to have activity similar to wild-type Cdkn2a in in vitro and cell culture assays (PMID: 10491434).
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, Oct 2024).
R128P missense loss of function CDKN2A R128P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R128P confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
R128W missense loss of function - predicted CDKN2A R128W lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R128W is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of Sp1 binding in cultured cells (PMID: 24163379).
R131C missense unknown CDKN2A R131C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R131C has been identified in sequencing studies (PMID: 30038052, PMID: 12870051), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
R138G missense unknown CDKN2A R138G lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R138G suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
R144C missense no effect - predicted CDKN2A R144C does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). R144C results in binding to Cdk4/6 and cell cycle inhibition similar to wild-type Cdkn2a in cultured cells and inhibition of Cdk6 activity similar to wild-type in an in vitro kinase assay (PMID: 10491434), and therefore, is predicted to have no effect on Cdkn2a protein function.
R24fs frameshift loss of function - predicted CDKN2A R24fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 24 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). R24fs has not been characterized, however, due to the effects of other truncation mutations downstream of R24 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
R24P missense loss of function CDKN2A R24P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). R24P confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136).
R24Q missense unknown CDKN2A R24Q lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). R24Q retains Cdk4 binding in culture (PMID: 19260062), inhibits proliferation and cell cycle progression to similar levels of wild-type protein in one study (PMID: 35001868), but results in impaired cell cycle and oxidative regulatory functions in another study (PMID: 23190892), and therefore, its effect on Cdkn2a protein function is unknown.
R29_A34del deletion unknown CDKN2A R29_A34del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 29 to 34 (UniProt.org). R29_A34del has been identified in sequencing studies (PMID: 30857943, PMID: 26390243), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
R58* nonsense loss of function - predicted CDKN2A R58* results in a premature truncation of the Cdkn2a protein at amino acid 58 or 156 (UniProt.org). R58* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
R58fs frameshift loss of function - predicted CDKN2A R58fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 58 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). R58fs has not been characterized, however, due to the effects of other truncation mutations downstream of R58 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
R80* nonsense loss of function - predicted CDKN2A R80* results in a premature truncation of the Cdkn2a protein at amino acid 80 of 156 (UniProt.org). R80* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
R80L missense loss of function - predicted CDKN2A R80L lies within ANK repeat 3 the Cdkn2a protein (UniProt.org). R80L results in Cdk4/6 binding and Cdk6 kinase inhibition similar to wild-type Cdkn2a, but a reduction in the ability to induce cell cycle arrest (PMID: 10491434), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
R80P missense unknown CDKN2A R80P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80P has been identified in sequencing studies (PMID: 26919633, PMID: 31175866), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
R80Q missense unknown CDKN2A R80Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80Q has been identified in sequencing studies (PMID: 27311873, PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
R87L missense loss of function CDKN2A R87L lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87L confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk6 kinase inhibition and a reduction in the ability to induce cell cycle arrest in culture (PMID: 10491434).
R87P missense loss of function CDKN2A R87P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87P confers a loss of function to the Cdkn2a protein as demonstrated by a reduction in Cdk4 and Cdk6 binding as well as loss of cell cycle control (PMID: 10491434).
R87W missense loss of function CDKN2A R87W lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87W confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 binding, and aberrant proliferation of cells in culture (PMID: 19260062).
R99G missense no effect - predicted CDKN2A R99G lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99G results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function.
R99P missense loss of function - predicted CDKN2A R99P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99P results in oxidative activity similar to wild-type Cdkn2a but a loss of cell-cycle regulatory activity (PMID: 23190892), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
R99Q missense unknown CDKN2A R99Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99Q results in decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
rearrange unknown unknown CDKN2A rearrange indicates an unspecified rearrangement of the CDKN2A gene.
S12* nonsense loss of function - predicted CDKN2A S12* results in a premature truncation of the Cdkn2a protein at amino acid 12 of 156 (UniProt.org). S12* has not been characterized, however, due to the effects of other truncation mutations downstream of S12 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
S12L missense unknown CDKN2A S12L lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). S12L has been identified in the scientific literature (PMID: 34676917), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
S43fs frameshift loss of function - predicted CDKN2A S43fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 43 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). S43fs has not been characterized, however, due to the effects of other truncation mutations downstream of S43 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
S43I missense unknown CDKN2A S43I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). S43I has been identified in sequencing studies (PMID: 14556920, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
S43Ifs*76 frameshift loss of function - predicted CDKN2A S43Ifs*76 indicates a shift in the reading frame starting at amino acid 43 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). S43Ifs*76 has not been characterized, however, due to the effects of other truncation mutations downstream of S43 (PMID: 9053859, PMID: 8668202), 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 aa 56 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). S56fs has not been characterized, however, due to the effects of other truncation mutations downstream of S56 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
S56I missense loss of function CDKN2A S56I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). S56I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization and reduced binding to Cdk4 in cell culture (PMID: 20340136).
S56N missense unknown CDKN2A S56N lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). S56N has been identified in the scientific literature (PMID: 9414654, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
T18P missense loss of function CDKN2A T18P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). T18P confers a loss of function to Cdkn2a as demonstrated by failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868).
T77fs frameshift loss of function - predicted CDKN2A T77fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 77 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). T77fs has not been characterized, however, due to the effects of other truncation mutations downstream of T77 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
T77P missense loss of function CDKN2A T77P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). T77P confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 binding, and aberrant proliferation of cells in culture (PMID: 19260062).
T79fs frameshift loss of function - predicted CDKN2A T79fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 79 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). T79fs has not been characterized, however, due to the effects of other truncation mutations downstream of T79 (PMID: 9053859, PMID: 8668202), 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.org). V106fs has not been characterized, however, due to the effects of other truncation mutations downstream of V106 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
V115L missense unknown CDKN2A V115L lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). V115L suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
V126D missense loss of function CDKN2A V126D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). V126D confers a loss of function to the Cdkn2a protein as demonstrated by reduced Cdk binding in in vitro assays (PMID: 8668202) and failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 35001868).
V28_E33del deletion unknown CDKN2A V28_E33del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 28 to 33 (UniProt.org). V28_E33del has been identified in the scientific literature (PMID: 36628896), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
V51I missense unknown CDKN2A V51I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). V51I rescues G1-cell cycle arrest similar to wild-type Cdkn2a in cultured cells (PMID: 11113205), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
V51Sfs*2 frameshift loss of function - predicted CDKN2A V51Sfs*2 indicates a shift in the reading frame starting at amino acid 51 and terminating 2 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V51Sfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of V51 (PMID: 9053859, PMID: 8668202), 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 aa 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 other truncation mutations downstream of V59 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
V82E missense unknown CDKN2A V82E lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82E has been identified in the scientific literature (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
V82fs frameshift loss of function - predicted CDKN2A V82fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 82 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). V82fs has not been characterized, however, due to the effects of other truncation mutations downstream of V82 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
V82M missense unknown CDKN2A V82M lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82M has been identified in sequencing studies (PMID: 29348365, PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
V96Afs*22 frameshift loss of function - predicted CDKN2A V96Afs*22 indicates a shift in the reading frame starting at amino acid 96 and terminating 22 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V96Afs*22 has not been characterized, however, due to the effects of other truncation mutations downstream of V96 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
W110* nonsense loss of function CDKN2A W110* results in a premature truncation of the Cdkn2a protein at amino acid 110 of 156 (UniProt.org). W110* confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk binding and failure to restrict cell-cycle progression in culture (PMID: 9053859, PMID: 8668202).
W110fs frameshift loss of function - predicted CDKN2A W110fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 110 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W110fs has not been characterized, however, due to the effects of a truncation mutation at the same site (PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
W15* nonsense loss of function - predicted CDKN2A W15* results in a premature truncation of the Cdkn2a protein at amino acid 15 of 156 (UniProt.org). W15* has not been characterized, however, due to the effects of other truncation mutations downstream of W15 (PMID: 9053859, PMID: 8668202), 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 aa 15 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). W15fs has not been characterized, however, due to the effects of other truncation mutations downstream of W15 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
wild-type none no effect Wild-type CDKN2A indicates that no mutation has been detected within the CDKN2A gene.
Y129* nonsense unknown CDKN2A Y129* results in a premature truncation of the Cdkn2a protein at amino acid 129 of 156 (UniProt.org). Y129* has been identified in sequencing studies (PMID: 30291346, PMID: 23565280, PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2024).
Y129C missense unknown CDKN2A Y129C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). Y129C has been identified in the scientific literature (PMID: 34393517), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
Y44* nonsense loss of function - predicted CDKN2A Y44* results in a premature truncation of the Cdkn2a protein at amino acid 44 of 156 (UniProt.org). Y44* has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Y44C missense unknown CDKN2A Y44C lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Y44C has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
Y44fs frameshift loss of function - predicted CDKN2A Y44fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 44 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). Y44fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Y44Lfs*76 frameshift loss of function - predicted CDKN2A Y44Lfs*76 indicates a shift in the reading frame starting at amino acid 44 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). Y44Lfs*76 has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Y44Tfs*9 frameshift loss of function - predicted CDKN2A Y44Tfs*9 indicates a shift in the reading frame starting at amino acid 44 and terminating 9 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). Y44Tfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.