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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
A100S missense no effect - predicted CDKN2A A100S lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A100S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Cdkn2a (PMID: 29533785) 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, nonsense mutations downstream of A102 are inactivating (PMID: 9053859, PMID: 8668202), thus A102fs 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, Jun 2020).
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).
A148T missense no effect CDKN2A A148T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A148T was shown to display similar activity to wild-type Cdkn2a including inhibition of cell growth in culture and binding to Cdk4 and Cdk6 (PMID: 10389768).
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, Jun 2020).
A20P missense loss of function - predicted CDKN2A A20P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20P is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a reduction in Cdk4 inhibitory activity (PMID: 19110720).
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, Jun 2020).
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, Jun 2020).
A36P missense loss of function - predicted CDKN2A A36P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36P is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by the inability to suppress reactive oxygen species formation (PMID: 23190892).
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, Jun 2020).
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 to similar levels of wild-type Cdkn2a in culture (PMID: 19260062), and demonstrates impaired ability to regulate oxidative stress and altered cell cycle distribution (PMID: 23190892), 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, nonsense mutations downstream of A60 are inactivating (PMID: 9053859, PMID: 8668202), thus A60fs 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, nonsense mutations downstream of A68 are inactivating (PMID: 9053859, PMID: 8668202), thus A68fs 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.
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, Jun 2020).
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.
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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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, nonsense mutations downstream of C72 are inactivating (PMID: 9053859), thus C72* 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.
C72S missense unknown CDKN2A C72S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). C72S results in reduced formation amyloid fibrils under oxidizing conditions compared to wild-type Cdkn2a in an in vitro assay (PMID: 31539802), 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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
D108H missense loss of function - predicted CDKN2A D108H lies within ANK repeat 3 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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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, Jun 2020).
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, Jun 2020).
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, Jun 2020).
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, Sep 2020).
D74N missense loss of function - predicted CDKN2A D74N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74N is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a reduction in Cdk kinase inhibition (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, Jun 2020).
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 unknown CDKN2A D84A lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84A has been identified in sequencing studies (PMID: 21325014) but has not been biochemically characterized and therefore, its effect on Cdkn2a protein is unknown (PubMed, Apr 2020).
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).
del deletion loss of function CDKN2A del indicates a deletion 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 or 156 (UniProt.org). E119* has not been characterized, however, a nonsense mutation downstream of E119 is inactivating (PMID: 8668202), thus E119* 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 not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
E120* nonsense loss of function - predicted CDKN2A E120* results in a premature truncation of the Cdkn2a protein at amino acid 120 of 156. 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, 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.
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).
E69G missense loss of function CDKN2A E69G lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). E69G 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).
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, nonsense mutations downstream of E88 are inactivating (PMID: 9053859, PMID: 8668202), thus E88* 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). 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.
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 as compared to wild-type Cdkn2a in an in vitro assay (PMID: 21462282), and therefore, is predicted to result in 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, and aberrant proliferation of cells in culture (PMID: 19260062, PMID: 20340136).
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, Jun 2020).
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 result in 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, nonsense mutations downstream of G23 are inactivating (PMID: 9053859, PMID: 8668202), thus G23fs 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 result in 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 culture (PMID: 24659262), but has not been fully characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2020).
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 result in 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 result in a loss of Cdkn2a protein function.
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, Jun 2020).
G67R missense loss of function CDKN2A G67R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G67R 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).
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.
H123Q missense no effect - predicted CDKN2A H123Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). H123Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Cdkn2a (PMID: 29533785) 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: 12614625), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2020).
H83N missense loss of function - predicted CDKN2A H83N lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83N is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a reduction in the ability to inhibit Cdk4 kinase activity in an in-vitro assay (PMID: 9660926).
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, Apr 2020).
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: 22817889), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2020).
H83Y missense loss of function - predicted CDKN2A H83Y lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Y is predicted to confer a loss of function to the Cdk2na protein, as demonstrated by loss of cell cycle control (PMID: 10491434).
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).
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).
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.
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, Apr 2020).
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.
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).
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, Jun 2020).
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).
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, Jul 2020).
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.
L65P missense unknown CDKN2A L65P lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). L65P results in intermediate cell proliferation compared to wild-type Cdkn2a in culture (PMID: 24659262), however, demonstrates reduced binding to CDK4 (PMID: 15235029), and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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.
L94P missense loss of function - predicted CDKN2A L94P lies within ANK repeat 3 of the Cdk2na 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 result in 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, nonsense mutations downstream of M52 are inactivating (PMID: 9053859, PMID: 8668202), thus, M52fs 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, Jun 2020).
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, Jun 2020).
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, Jun 2020).
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).
mutant unknown unknown CDKN2A mutant indicates an unspecified mutation in the CDKN2A gene.
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.
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, Jun 2020).
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 the CDKN2A gene, 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.
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, Jun 2020).
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, Jun 2020).
P48L missense loss of function - predicted CDKN2A P48L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48L is predicted to confer a loss of function to the Cdk2na protein, as demonstrated by loss of cell cycle control (PMID: 10491434).
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, Jun 2020).
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, Jun 2020).
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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Sep 2020).
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.
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, Jun 2020).
P81T missense loss of function - predicted CDKN2A P81T lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81T is predicted to result in a loss of Cdkn2a protein function as demonstrated by its reduced ability to suppress ROS activity and regulate the cell cycle in vitro (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, 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.
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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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, Jun 2020).
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, Apr 2020).
R124C missense unknown CDKN2A R124C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R124C has been identified in sequencing studies (PMID: 25303977, PMID: 25780468), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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, Jun 2020).
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 (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, Jun 2020).
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).
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 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.
R80* nonsense loss of function - predicted CDKN2A R80* results in a premature truncation of the Cdkn2a protein at amino acid 80 of 156. 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 is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a reduction in the ability to induce cell cycle arrest (PMID: 10491434).
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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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, Jun 2020).
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).
R99P missense loss of function - predicted CDKN2A R99P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99P is predicted to confer a loss of function to the Cdkn2a protein, a demonstrated by loss of Cdkn2a cell-cycle regulatory activity, but does not affect the oxidative activity of Cdkn2a in cultured cells (PMID: 23190892).
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, nonsense mutations downstream of S12 are inactivating (PMID: 9053859, PMID: 8668202), thus S12* 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), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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.
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, Jun 2020).
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.
T77P missense loss of function CDKN2A T77P lies within ANK repeat 2 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 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.
V126D missense loss of function - predicted CDKN2A V126D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). V126D is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by reduced Cdk binding (PMID: 8668202).
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 a cell culture assay (PMID: 11113205), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
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.
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, Apr 2020).
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.
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, Jun 2020).
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 cell cycle control 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 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.
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, nonsense mutations downstream of W15 are inactivating (PMID: 9053859, PMID: 8668202), thus W15* 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.
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, Jun 2020).
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, nonsense mutations downstream of Y44 are inactivating (PMID: 9053859, PMID: 8668202), thus Y44* 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.
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, nonsense mutations downstream of Y44 are inactivating (PMID: 9053859, PMID: 8668202), thus Y44fs is predicted to lead to a loss of Cdkn2a protein function.