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Gene Symbol TP53
Synonyms BCC7 | BMFS5 | LFS1 | P53 | TRP53
Gene Description TP53, tumor protein p53, is a tumor suppressor (PMID: 30562755) and oncogene (PMID: 30577483) involved in cell cycle arrest and apoptosis, and is the most frequently mutated gene in cancer (PMID: 10065147, PMID: 22713868). TP53 germline mutations are common in Li-Fraumeni syndrome (PMID: 30239254) and somatic missense mutations are frequent in almost all cancer types (PMID: 30224644) and are also implicated in chemoresistance (PMID: 9927204, PMID: 24065105, PMID: 27066457).
ACMG Incidental List v3.0:
Yes, Li-Fraumeni syndrome (PMID: 34012068)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A119P missense unknown TP53 A119P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A119P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A138T missense loss of function - predicted TP53 A138T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). A138T is predicted to confer a loss of function to the Tp53 protein, as demonstrated by loss of transcription activity in a subset of Tp53 target genes in culture (PMID: 12725534).
A159fs frameshift loss of function - predicted TP53 A159fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 159 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), A159fs is predicted to lead to a loss of Tp53 protein function.
A159G missense unknown TP53 A159G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A159G has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A159P missense unknown TP53 A159P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). A159P demonstrates binding to ZBP-89 at similar levels as wild-type Tp53 in culture (PMID: 12759240), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
A159V missense loss of function TP53 A159V lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). A159V results decreased Tp53 transactivation activity and leads to reduced apoptosis relative to wild type Tp53 in cell culture (PMID: 22862161).
A161G missense unknown TP53 A161G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A161G has been identified in the scientific literature (PMID: 27813088, PMID: 26723900), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A161P missense unknown TP53 A161P lies within the DNA-binding domain of the Tp53 protein (UniProt.org). A161P has been identified in the scientific literature (PMID: 27813088, PMID: 26723900), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A161T missense gain of function - predicted TP53 A161T lies within the DNA-binding domain of the Tp53 protein (PMID: 21232794). A161T is predicted to confer a gain of function to the Tp53 protein, as demonstrated by constitutive activation of Tp53 in cell culture (PMID: 16827139).
A161V missense unknown TP53 A161V lies within the DNA-binding domain of the Tp53 protein (PMID: 21232794). A161V does not result in decreased drug-induced apoptosis compared to wild-type Tp53 (PMID: 12726864), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
A189D missense unknown TP53 A189D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A189D has been identified in sequencing studies (PMID: 23835706), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A189T missense unknown TP53 A189T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). A189T has been identified in the scientific literature (PMID: 8688317), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A189V missense no effect - predicted TP53 A189V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A189V results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
A276V missense unknown TP53 A276V lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). A276V has been identified in the scientific literature (PMID: 30871527, PMID: 21232794), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A276_G279del deletion unknown TP53 A276_G279del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 276 to 279 (PMID: 21760703). A276_G279del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A307fs frameshift loss of function - predicted TP53 A307fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 307 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the tetramerization domain (PMID: 20978130), A307fs is predicted to lead to a loss of Tp53 function.
A307P missense unknown TP53 A307P lies within the CCAR2, HIPK1, and CARM1-interacting regions of the Tp53 protein (UniProt.org). A307P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A307S missense unknown TP53 A307S lies within the CCAR2, HIPK1, and CARM1-interacting region of the Tp53 protein (UniProt.org). A307S has been identified in the scientific literature (PMID: 25220666, PMID: 16094622), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A307T missense unknown TP53 A307T lies within the CCAR2, HIPK1, and CARM1-interacting region of the Tp53 protein (UniProt.org). A307T has been identified in sequencing studies (PMID: 28949453), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A347D missense loss of function TP53 A347D lies within the tetramerization domain of the Tp53 protein (UniProt.org). A347D results in results in decreased Tp53 tetramerization and increased colony formation in cell culture (PMID: 29955864).
A347P missense unknown TP53 A347P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). A347P results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
A347T missense loss of function TP53 A347T lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). A347T results in altered oligomerization compared to wild-type Tp53 in in vitro assays (PMID: 20978130, PMID: 19454241), and decreased Tp53 transactivation activity in a reporter assay (PMID: 19454241).
A353V missense unknown TP53 A353V lies within the tetramerization domain of the Tp53 protein (PMID: 15510160). A353V has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A74T missense unknown TP53 A74T lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). A74T has been identified in sequencing studies (PMID: 19336573, PMID: 23009112), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
A83V missense no effect - predicted TP53 A83V lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). A83V results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
act mut unknown gain of function TP53 act mut indicates that this variant results in a gain of function in the Tp53 protein. However, the specific amino acid change has not been identified.
amp none no effect TP53 amp indicates an increased number of copies of the TP53 gene. However, the mechanism causing the increase is unspecified.
C124fs frameshift loss of function - predicted TP53 C124fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 124 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), C124fs is predicted to lead to a loss of Tp53 protein function.
C124G missense unknown TP53 C124G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C124G has been identified in sequencing studies (Journal of Thoracic Oncology, Vol 13, Issue 10, S987-S988), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
C124S missense gain of function - predicted TP53 C124S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C124S is predicted to confer a gain of function to the Tp53 protein, as demonstrated by enhanced DNA-binding capacity in cell culture (PMID: 12034820).
C135Afs*35 frameshift loss of function - predicted TP53 C135Afs*35 indicates a shift in the reading frame starting at amino acid 135 and terminating 35 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), C135fs*35 is predicted to lead to a loss of Tp53 protein function.
C135F missense loss of function - predicted TP53 C135F lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C135F is predicted to confer a loss of function to the Tp53 protein, as demonstrated by loss of Tp53 transactivation activity in culture (PMID: 16492679).
C135fs frameshift loss of function - predicted TP53 C135fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 135 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), C135fs is predicted to lead to a loss of Tp53 protein function.
C135S missense loss of function - predicted TP53 C135S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C135S is predicted to confer a loss of function to the Tp53 protein, as demonstrated by decreased DNA-binding in cell culture (PMID: 12034820).
C135W missense unknown TP53 C135W lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C135W has been identified in the scientific literature (PMID: 18765419, PMID: 30737244), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
C135Y missense loss of function TP53 C135Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C135Y confers a loss of function to the Tp53 protein as demonstrated by loss of binding to the Drosha complex and inability to induce downstream miRs and loss of transactivation activity in cell culture (PMID: 19626115, PMID: 8336941).
C141Afs*5 frameshift loss of function - predicted TP53 C141Afs*5 indicates a shift in the reading frame starting at amino acid 141 and terminating 5 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), C141Afs*5 is predicted to lead to a loss of Tp53 protein function.
C141G missense unknown TP53 C141G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C141G results in decreased transactivation activity in a yeast assay (PMID: 12826609), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
C141R missense unknown TP53 C141R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C141R has been identified in the scientific literature (PMID: 26160192, PMID: 21483000, PMID: 29728688), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
C141S missense unknown TP53 C141S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C141S results in DNA-binding affinity similar to wild-type Tp53, however, it also demonstrates increased oxidative dissociation compared to wild-type Tp53 in an in vitro assay (PMID: 25584637), and therefore, its effect on Tp53 protein function is unknown.
C141W missense unknown TP53 C141W lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C141W demonstrates slightly reduced transactivation activity in a yeast reporter assay and decreased Tp53 expression in yeast (PMID: 20407015), but has not been characterized in human cells, and therefore, its effect on Tp53 protein function is unknown.
C141Y missense loss of function TP53 C141Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C141Y results in a loss of transcription activity in a subset of Tp53-target genes and increased expression of genes downregulated by wild-type Tp53 in culture (PMID: 12725534).
C176* nonsense loss of function - predicted TP53 C176* results in a premature truncation of the Tp53 protein at amino acid 176 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), C176* is predicted to lead to a loss of Tp53 protein function.
C176Afs*71 frameshift loss of function - predicted TP53 C176Afs*71 indicates a shift in the reading frame starting at amino acid 176 and terminating 71 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), C176Afs*71 is predicted to lead to a loss of Tp53 protein function.
C176F missense loss of function - predicted TP53 C176F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176F is predicted to confer a loss of function to the Tp53 protein, as demonstrated by the inability to induce CDKN1A (p21) transcription in cell culture (PMID: 22090360).
C176R missense unknown TP53 C176R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176R has been identified in the scientific literature (PMID: 33250737), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2021).
C176W missense unknown TP53 C176W lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176W is associated with decreased induction of PUMA, BAX and p21 expression in a patient sample in cell culture (PMID: 19850740), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
C176Y missense loss of function TP53 C176Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176Y results in decreased Tp53 activity (PMID: 26585234), and decreased drug-induced apoptosis in cell culture (PMID: 12726864).
C229R missense unknown TP53 C229R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). The functional effect of C229R is conflicting, as it results in decreased ability to suppress colony formation in cell culture, but increased Tp53 transactivation activity in one assay (PMID: 25584008), and decreased transactivation activity in another assay (PMID: 28369373), and therefore, its effect on Tp53 protein function is unknown.
C238F missense loss of function - predicted TP53 C238F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238F results in increased Foxm1 expression in cultured cells and animal models, and inhibits activation of Ampk leading to decreased Foxo3a phosphorylation in cell culture (PMID: 29269868), and also results in decreased expression of the Tp53 targets Notch1, Btg2, and p21 in cell culture (PMID: 25634208), and therefore is predicted to lead to a loss of Tp53 protein function.
C238S missense loss of function TP53 C238S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238S confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809).
C238W missense unknown TP53 C238W lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238W has been identified in the scientific literature (PMID: 29505425), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
C238Y missense no effect - predicted TP53 C238Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238Y demonstrates binding to MDM2 and phosphorylation at Serine 15, results in transactivation the Tp53 target gene p21 similar to wild-type Tp53 in cell culture, and does not significantly alter Tp53 structure in molecular models (PMID: 16818505), and therefore is predicted to have no effect on Tp53 protein function.
C238_M246del deletion unknown TP53 C238_M246del results in the deletion of nine amino acids in the DNA-binding domain of the Tp53 protein from amino acids 238 to 246 (UniProt.org). C238_M246del has been identified in sequencing studies (PMID: 11895856), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
C242Afs*5 frameshift loss of function - predicted TP53 C242Afs*5 indicates a shift in the reading frame starting at amino acid 242 and terminating 5 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (PMID: 22713868), C242Afs*5 is predicted to lead to a loss of Tp53 protein function.
C242F missense loss of function TP53 C242F lies within a zinc-binding residue in the DNA-binding region of the Tp53 protein (UniProt.org). C242F confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809, PMID: 22591662), however, has been reported to demonstrate radiosensitivity similar to wild-type Tp53 (PMID: 19035295).
C242fs frameshift loss of function - predicted TP53 C242fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 242 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (PMID: 22713868), C242fs is predicted to lead to a loss of Tp53 protein function.
C242R missense unknown TP53 C242R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C242R results in decreased transactivation activity in a yeast assay (PMID: 17947339), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
C242S missense loss of function TP53 C242S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C242S results in decreased Tp53 binding to DNA in cell culture (PMID: 17170001), decreased interaction with MIF (PMID: 18502749), decreased nuclear translocation of YB1 (PMID: 12743601), decreased Tp53 protein stability (PMID: 10713666), and leads to a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015).
C242Y missense loss of function - predicted TP53 C242Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C242Y is predicted to confer a loss of function to the Tp53 protein, as demonstrated by abolished Zbp-89 interaction in culture (PMID: 12759240).
C242_R248delinsW indel unknown TP53 C242_R248delinsW results in a deletion of seven amino acids in the DNA-binding domain of the Tp53 protein from amino acids 242 to 248, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). C242_R248delinsW has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
C275* nonsense loss of function TP53 C275* results in a premature truncation of the Tp53 protein at amino acid 275 of 393 (UniProt.org). C275* results in a loss of Tp53 transactivation activity and inability to suppress colony formation in cell culture (PMID: 25584008).
C275F missense unknown TP53 C275F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C275F has been identified in the scientific literature (PMID: 25847421, PMID: 26873401, PMID: 27095739), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
C275S missense loss of function TP53 C275S lies within the DNA interaction region of the Tp53 protein (UniProt.org). C275S confers a loss of function on the Tp53 protein, as demonstrated by decreased DNA-binding in cell culture (PMID: 12034820), attenuated oxidative dissociation, and decreased affinity for the Gadd45 promoter in an in vitro assay (PMID: 25584637).
C275Wfs*70 frameshift loss of function - predicted TP53 C275Wfs*70 indicates a shift in the reading frame starting at amino acid 275 and terminating 70 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). C275Wfs*70 has not been biochemically characterized, but can be predicted to lead to a loss of Tp53 protein function due to the effects of C275* (PMID: 25584008).
C275Y missense loss of function - predicted TP53 C275Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C275Y is predicted to confer a loss of function to Tp53, as it results in decreased activation of the Tp53 target p21, and is associated with increased glycolysis in cell culture (PMID: 28993478).
C277F missense loss of function TP53 C277F lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C277F results in decreased DNA binding, reduced activation of Tp53 target genes, and reduced growth suppression activity in cultured cells (PMID: 12034820, PMID: 19850740, PMID: 18524770).
C277S missense gain of function - predicted TP53 C277S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C277S results in binding affinity for the Gadd45 promoter similar to wild-type Tp53 and slight attenuation of oxidative dissociation in in vitro assays (PMID: 25584637), but enhanced DNA-binding capacity as compared to wild-type Tp53 in cell culture (PMID: 12034820), and therefore, is predicted to result in a gain of Tp53 protein function.
C277Y missense gain of function - predicted TP53 C277Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C277Y interacts with and regulates transcription of p73 and p63 (PMID: 11238924), activates MDM2 transcription to similar levels of wild-type protein, retains the ability to induce apoptosis, and increases PIG3 transcription in a reporter assay (PMID: 15192123), and therefore, is predicted to lead to a gain of Tp53 protein function.
D184N missense no effect TP53 D184N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). D184N demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587).
D228fs frameshift loss of function - predicted TP53 D228fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 228 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), D228fs is predicted to result in a loss of Tp53 protein function.
D228N missense unknown TP53 D228N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). D228N has been identified in sequencing studies (PMID: 26317919), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
D259G missense unknown TP53 D259G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). D259G has been identified in the scientific literature (PMID: 21232794, PMID: 29936259, PMID: 15580553), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
D259N missense unknown TP53 D259N lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). D259N results in altered Tp53 transactivation activity in yeast assays (PMID: 11896595), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
D259V missense unknown TP53 D259V lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). D259V results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
D259Y missense unknown TP53 D259Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D259Y has been identified in the scientific literature (PMID: 22550420, PMID: 28751246, PMID: 27859003), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
D281A missense loss of function - predicted TP53 D281A lies within the DNA-binding domain of the Tp53 protein (UniProt.org). D281A is predicted to confer a loss of function to the Tp53 protein, as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770).
D281E missense loss of function - predicted TP53 D281E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281E results in loss of Tp53 binding to ZBP-89 in cell culture (PMID: 12759240), and also demonstrates a lack of Tp53 transactivation activity in a yeast assay (PMID: 20407015), and therefore, is predicted to confer a loss of function to the Tp53 protein.
D281G missense gain of function - predicted TP53 D281G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281G confers a gain of function to Tp53, as indicated by increased transactivation of cytokines compared to wild-type Tp53, increased Rac1 protein activity and cell migration in culture (PMID: 22114072), increased motility and invasiveness in one of two cell lines (PMID: 30968154), and increased TIM50 promoter activity in a reporter assay (PMID: 21621504).
D281H missense loss of function TP53 D281H lies within the DNA-binding domain of the Tp53 protein (UniProt.org). D281H results in altered transcriptional activation of Tp53 target genes and decreased induction of apoptosis in cell culture (PMID: 17390010).
D324A missense unknown TP53 D324A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). D324A demonstrates increased transcription activity and tetramerization ability similar to wild-type Tp53 in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
D324H missense unknown TP53 D324H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). D324H demonstrates increased transcription activity and tetramerization ability similar to wild-type Tp53 in yeast (PMID: 16007150), but has not been biochemically characterized and therefore, its effect on Tp53 function is unknown.
D324N missense unknown TP53 D324N lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). D324N demonstrates increased transcription activity and tetramerization ability similar to wild-type Tp53 in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
D324Y missense unknown TP53 D324Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). D324Y demonstrates increased Tp53 transcription activity in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
D49H missense no effect - predicted TP53 D49H lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). D49H results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
D7A missense loss of function - predicted TP53 D7A lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). D7A is predicted to confer a loss of function to the Tp53 protein, as demonstrated by reduced Pimpt-mediated Tp53 methylation (PMID: 22735455).
dec exp none no effect TP53 dec exp indicates decreased expression of the Tp53 protein. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function TP53 del indicates a deletion of the TP53 gene.
E11Q missense no effect - predicted TP53 E11Q lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). E11Q results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
E171Q missense unknown TP53 E171Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E171Q has been identified in the scientific literature (PMID: 28679771), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E171V missense unknown TP53 E171V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E171V has been identified in sequencing studies (PMID: 23991606), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E171_V172insDDV insertion unknown TP53 E171_V172insDDV results in the insertion of three amino acids in the DNA-binding domain of the Tp53 protein between amino acids 171 and 172 (PMID: 22713868). E171_V172insDDV has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E180* nonsense loss of function - predicted TP53 E180* results in a premature truncation of the Tp53 protein at amino acid 180 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), E180* is predicted to lead to a loss of Tp53 protein function.
E180K missense loss of function TP53 E180K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E180K confers a loss of function to the Tp53 protein, as indicated by alterations in the the proteolytic processing resulting in weak binding of BCL-xL, as well as decreased activation of downstream targets and reduced apoptosis in cell culture (PMID: 24814347).
E180R missense loss of function TP53 E180R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E180R demonstrates reduced DNA-binding cooperativity, and results in decreased DNA binding affinity, leading to reduced expression of BAX and PUMA, and reduced repression of target genes in cell culture (PMID: 23966881, PMID: 16035029).
E198* nonsense loss of function - predicted TP53 E198* results in a premature truncation of the Tp53 protein at amino acid 198 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), E198* is predicted to result in a loss of Tp53 protein function.
E198D missense unknown TP53 E198D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E198D has been identified in sequencing studies (PMID: 29451897, PMID: 28424201), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E204fs frameshift loss of function - predicted TP53 E204fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 204 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), E204fs is predicted to result in a loss of Tp53 protein function.
E204G missense unknown TP53 E204G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E204G has been identified in the scientific literature (PMID: 8344494, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E224* nonsense loss of function - predicted TP53 E224* results in a premature truncation of the Tp53 protein at amino acid 224 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), E224* is predicted to result in a loss of Tp53 protein function.
E224D missense unknown TP53 E224D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E224D has been identified in sequencing studies (PMID: 30382883, PMID: 24755471, PMID: 22669068), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E224fs frameshift loss of function - predicted TP53 E224fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 224 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), E224fs is predicted to result in a loss of Tp53 protein function.
E224K missense unknown TP53 E224K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E224K demonstrates defects in Tp53 transactivation activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
E258* nonsense loss of function - predicted TP53 E258* results in a premature truncation of the Tp53 protein at amino acid 258 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), E258* is predicted to lead to a loss of Tp53 protein function.
E258D missense loss of function TP53 E258D lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). E258D results in a loss of Tp53 transcriptional activity and failure to inhibit colony formation in culture (PMID: 12019170).
E258K missense loss of function - predicted TP53 E258K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258K demonstrates loss of repression of PKD1 promoter activity in a reporter assay (PMID: 16931520), and loss of transactivation activity in yeast (PMID: 12826609), and therefore, is predicted to lead to a loss of Tp53 protein function.
E258Q missense loss of function TP53 E258Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258Q confers a loss of Tp53 DNA binding ability and transcriptional activation in cell culture (PMID: 21643018).
E271K missense loss of function - predicted TP53 E271K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E271K is predicted to result in decreased Tp53 stability and reduced Tp53 protein expression by computational modeling (PMID: 21763698), and therefore, is predicted to result in a loss of Tp53 protein function.
E285* nonsense loss of function - predicted TP53 E285* results in a premature truncation of the Tp53 protein at amino acid 285 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), E285* is predicted to lead to a loss of Tp53 protein function.
E285K missense loss of function TP53 E285K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E285K results in a temperature-dependent decrease in transcriptional activation by Tp53 in cell culture (PMID: 15613472, PMID: 22710932).
E285V missense loss of function TP53 E285V lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). E285V results in decreased Tp53 transactivation activity and reduced growth suppression ability in cell culture (PMID: 25584008, PMID: 18762572).
E286G missense unknown TP53 E286G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286G results in defects in Tp53 transactivation activity (PMID: 11313981), and does not affect transactivation activity of wild-type Tp53 in yeast assays (PMID: 11896595), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
E286K missense loss of function - predicted TP53 E286K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286K results in decreased transactivation activity in cultured cells (PMID: 20505364), and therefore, is predicted to result in a loss of Tp53 protein function.
E286Q missense loss of function TP53 E286Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286Q confers a loss of function on the Tp53 protein as indicated by reduced MDM2 promoter binding in an in vitro assay, decreased MDM2, BAX, and CDKN1A (WAF) transactivation (PMID: 12509279), and decreased repression of IKKbeta (PMID: 26497680) and Nrf2 transactivation in reporter assays (PMID: 25881545).
E287A missense loss of function - predicted TP53 E287A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E287A is predicted to confer a loss of function to the Tp53 protein, as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770).
E294* nonsense loss of function - predicted TP53 E294* results in a premature truncation of the Tp53 protein at amino acid 294 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), E294* is predicted to lead to a loss of Tp53 protein function.
E294G missense unknown TP53 E294G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E294G has been identified in sequencing studies (PMID: 22216294), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E298* nonsense loss of function - predicted TP53 E298* results in a premature truncation of the Tp53 protein at amino acid 298 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), E298* is predicted to lead to a loss of Tp53 protein function.
E298V missense unknown TP53 E298V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E298V has been identified in sequencing studies (PMID: 26205736), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E336* nonsense loss of function TP53 E336* results in a premature truncation of the Tp53 protein at amino acid 336 of 393 (UniProt.org). E336* results in decreased Tp53 transactivation activity and reduced nuclear localization in cell culture (PMID: 9331090, PMID: 16969106).
E339* nonsense loss of function - predicted TP53 E339* results in a premature truncation of the Tp53 protein at amino acid 339 of 393 (UniProt.org). E339* has not been characterized however, due to the effects of other truncation mutations downstream of E339 (PMID: 9331090, PMID: 16969106), is predicted to result in a loss of Tp53 protein function.
E339K missense no effect TP53 E339K lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). E339K demonstrates similar ability to regulate expression of Tp53 targets and induce apoptosis in culture (PMID: 24076587).
E343A missense loss of function - predicted TP53 E343A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). E343A results in altered oligomerization of Tp53 in in vitro assays (PMID: 25794615, PMID: 29549180), and increased Mdm2-mediated degradation and decreased Tp53 ubiquitination in cultured cells (PMID: 29549180), and therefore, is predicted to lead to a loss of Tp53 protein function.
E343Gfs*2 frameshift unknown TP53 E343Gfs*2 indicates a shift in the reading frame starting at amino acid 343 and terminating 2 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). E343Gfs*2 has been identified in sequencing studies (PMID: 30250552), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
E346* nonsense unknown TP53 E346* results in a premature truncation of the Tp53 protein at amino acid 346 of 393 (UniProt.org). E346* has been identified in sequencing studies (PMID: 17289876, PMID: 28548125), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
E349* nonsense loss of function TP53 E349* results in a premature truncation of the Tp53 protein at amino acid 349 of 393 (UniProt.org). E349* results in a loss of Tp53 protein function, as indicated by decreased transcriptional transactivation activity in a reporter assay, altered subcellular localization, and decreased induction apoptosis in cultured cells (PMID: 31081129).
E349fs frameshift unknown TP53 E349fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 349 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E349fs has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E358G missense unknown TP53 E358G lies within the HIPK1, CARM1 and HIPK2-interacting region of the Tp53 protein (UniProt.org). E358G has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
E358V missense no effect - predicted TP53 E358V lies within the HIPK1, HIPK2, and CARM1-interacting region of the Tp53 protein (UniProt.org). E358V results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
E56* nonsense loss of function - predicted TP53 E56* results in a premature truncation of the Tp53 protein at amino acid 56 of 393 (UniProt.org). E56* has not been biochemically characterized, however, due to the effects of truncation mutations downstream of E56 (PMID: 9331090, PMID: 16969106), is predicted to result in a loss of Tp53 protein function.
exon10 unknown unknown TP53 exon 10 indicates an unspecified mutation has occurred in exon 10 of the TP53 gene.
exon11 unknown unknown TP53 exon 11 indicates an unspecified mutation has occurred in exon 11 of the TP53 gene.
exon2 unknown unknown TP53 exon 2 indicates an unspecified mutation has occurred in exon 2 of the TP53 gene.
exon4 unknown unknown TP53 exon 4 indicates an unspecified mutation has occurred in exon 4 of the TP53 gene.
exon5 unknown unknown TP53 exon 5 indicates an unspecified mutation has occurred in exon 5 of the TP53 gene.
exon6 unknown unknown TP53 exon 6 indicates an unspecified mutation has occurred in exon 6 of the TP53 gene.
exon7 unknown unknown TP53 exon 7 indicates an unspecified mutation has occurred in exon 7 of the TP53 gene.
exon8 unknown unknown TP53 exon 8 indicates an unspecified mutation has occurred in exon 8 of the TP53 gene.
exon9 unknown unknown TP53 exon 9 indicates an unspecified mutation has occurred in exon 9 of the TP53 gene.
F109L missense unknown TP53 F109L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F109L has been identified in sequencing studies (PMID: 33209609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
F109Sfs*14 frameshift loss of function - predicted TP53 F109Sfs*14 indicates a shift in the reading frame starting at amino acid 109 and terminating 14 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), F109Sfs*14 is predicted to lead to a loss of Tp53 protein function.
F109V missense unknown TP53 F109V lies within the DNA-binding domain of the Tp53 protein (UniProt.org). F109V has been identified in the scientific literature (PMID: 29979965, PMID: 12826609, PMID: 30709875), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
F113Y missense unknown TP53 F113Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F113Y has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
F134fs frameshift loss of function - predicted TP53 F134fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 134 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to of the disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), F134fs is predicted to lead to a loss of Tp53 protein function.
F134L missense loss of function TP53 F134L lies within the DNA binding region of the Tp53 protein (UniProt.org). F134L results in a loss of Tp53-dependent DNA damage response (PMID: 14587098), altered subcellular localization, failure to induce apoptosis in culture, decreased expression of downstream Tp53-targets, and decreased transactivation activity in a reporter assay (PMID: 31081129).
F134Y missense loss of function TP53 F134Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). F134Y results in decreased Tp53 transactivation activity and reduced ability to suppress colony formation in cell culture (PMID: 25584008).
F212C missense unknown TP53 F212C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F212C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
F212fs frameshift loss of function - predicted TP53 F212fs results in a change in the amino acid sequence of the Tp53 protein beginning at 212 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), F212fs is predicted to lead to a loss of Tp53 protein function.
F212V missense unknown TP53 F212V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F212V has been identified in sequencing studies (PMID: 28769798, PMID: 11719428), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
F212Y missense gain of function - predicted TP53 F212Y lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). F212Y is predicted to confer a gain of function to the Tp53 protein as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
F270I missense unknown TP53 F270I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F270I has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
F270L missense unknown TP53 F270L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F270L has been identified in the scientific literature (PMID: 12826609, PMID: 17015838), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
F328S missense loss of function - predicted TP53 F328S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F328S has not been characterized in human cells, but results in decreased Tp53 transcriptional activity in yeast assays, and is predicted to decrease Tp53 stability in computational models (PMID: 16007150, PMID: 20978130), and therefore, is predicted to result in a loss of Tp53 protein function.
F338S missense unknown TP53 F338S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F338S results in decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
F338Y missense unknown TP53 F338Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F338Y has no effect on tetramerization in a yeast assay (PMID: 16007150), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
F341C missense loss of function - predicted TP53 F341C lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341C results in decreased Tp53 tetramerization in cell culture (PMID: 19454241) and in yeast (PMID: 16007150), and reduced Tp53 transcriptional activity in a reporter assay (PMID: 19454241), and therefore, is predicted to result in a loss of Tp53 protein function.
F341S missense unknown TP53 F341S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341S results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
F341V missense unknown TP53 F341V lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341V results in the inability to form Tp53 tetramers and decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 function is unknown.
F341Y missense unknown TP53 F341Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341Y results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
G105A missense unknown TP53 G105A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105A has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G105C missense unknown TP53 G105C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105C has been identified in sequencing studies (PMID: 24236184, PMID: 30642453), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G105D missense unknown TP53 G105D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105D has been identified in the scientific literature (PMID: 16000567, PMID: 27273737), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G108V missense unknown TP53 G108V lies within the DNA-binding domain of the Tp53 protein (UniProt.org). G108V has been identified in the scientific literature (PMID: 27167113), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
G112C missense unknown TP53 G112C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G112D missense unknown TP53 G112D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112D has been identified in sequencing studies (PMID: 29956783), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G112S missense unknown TP53 G112S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112S has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G117E missense unknown TP53 G117E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G117E results in decreased Tp53 transcriptional activity in a yeast assay (PMID: 11429700), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 function is unknown.
G154A missense unknown TP53 G154A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154A has been identified in sequencing studies (PMID: 30772141), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G154C missense unknown TP53 G154C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154C has been identified in sequencing studies (PMID: 26718964), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G154fs frameshift loss of function - predicted TP53 G154fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 154 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), G154fs is predicted to lead to a loss of Tp53 protein function.
G154R missense unknown TP53 G154R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G154S missense unknown TP53 G154S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154S demonstrates altered transactivation capacity in a yeast assay (PMID: 20407015), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
G154V missense loss of function - predicted TP53 G154V lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G154V results in decreased Tp53 transactivation activity in culture (PMID: 8336941), and therefore, is predicted to result in a loss of Tp53 protein function.
G199* nonsense loss of function - predicted TP53 G199* results in a premature truncation of the Tp53 protein at amino acid 199 of 393 (UniProt.org). G199* results in loss of Tp53 protein expression, and results in increased proliferation, migration, and invasion in cultured cells (PMID: 33987408), and therefore, is predicted to lead to a loss of Tp53 protein function.
G226Afs*21 frameshift loss of function - predicted TP53 G226Afs*21 indicates a shift in the reading frame starting at amino acid 226 and terminating 21 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), G226Afs*21 is predicted to lead to a loss of Tp53 protein function.
G244C missense unknown TP53 G244C lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G244C has been identified in the scientific literature (PMID: 31588418, PMID: 26762747, PMID: 31186738), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
G244D missense loss of function TP53 G244D lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G244D results in decreased Tp53 transactivation activity in reporter assays and decreased expression of the Tp53 target Gas7 in cultured cells (PMID: 9524109, PMID: 29706651).
G244fs frameshift loss of function - predicted TP53 G244fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 244 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (PMID: 22713868), G244fs is predicted to lead to a loss of Tp53 protein function.
G244S missense loss of function TP53 G244S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G244S results in a loss of CDKN1A (p21Cip1) transactivation by Tp53 and increased proliferation relative to wild-type in culture (PMID: 26818906).
G244V missense unknown TP53 G244V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G244V results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
G245A missense loss of function TP53 G245A is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245A results in decreased DNA binding and reduced transactivation of p21 by Tp53, and also confers a gain-of-function to the Tp53 protein as demonstrated by transcriptional activation of SLC25A and increased tumorigenesis in mouse models (PMID: 24681808, PMID: 20589832).
G245C missense loss of function TP53 G245C is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245C results in a loss of transactivation of several targets of wild-type Tp53 (PMID: 22170099, PMID: 30126368), and also confers a gain-of-function to Tp53, as demonstrated through inhibition of Ampk activation in cell culture, and leads to increased tumor formation in mouse models (PMID: 24857548), and increased migration and invasion in culture (PMID: 30126368).
G245D missense loss of function TP53 G245D is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245D results in decreased activation of Tp53 target genes (PMID: 22214764, PMID: 25634208, PMID: 27533082), and also confers a gain-of-function to Tp53 as demonstrated by aberrant interaction with ZBP-89, as well as induction of FOXM1 expression, and leads to decreased apoptosis in culture and increased tumor growth and metastasis in mouse models (PMID: 22214764, PMID: 29269868).
G245F missense unknown TP53 G245F is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G245F has been identified in the scientific literature (PMID: 30349649, PMID: 11051249), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G245R missense unknown TP53 G245R is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). G245R has been identified in the scientific literature (PMID: 17041903, PMID: 31073076), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
G245S missense loss of function TP53 G245S is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245S results in a loss of wild-type Tp53 transcriptional activity, and also confers a gain of function to Tp53, resulting in enhanced Akt signaling and transformation in cell culture (PMID: 20212049, PMID: 23538418, PMID: 17417775).
G245V missense loss of function TP53 G245V is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245V results in decreased Tp53 transactivation and transrepression activity and decreased growth suppression ability compared to wild-type Tp53 in cell culture (PMID: 8001119).
G245_M246insAMC insertion unknown TP53 G245_M246insAMC results in the insertion of three amino acids in the DNA-binding domain of the Tp53 protein between amino acids 245 and 246 (PMID: 22713868). G245_M246insAMC has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G262D missense unknown TP53 G262D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G262D demonstrates a loss of transcriptional activity in a yeast assay (PMID: 11429705), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
G262R missense unknown TP53 G262R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G262R has been identified in sequencing studies (PMID: 23243274), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G266* nonsense loss of function - predicted TP53 G266* results in a premature truncation of the Tp53 protein at amino acid 266 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), G266* is predicted to lead to a loss of Tp53 protein function.
G266E missense loss of function TP53 G266E lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). G266E results in decreased Tp53 transactivation activity (PMID: 20505364), and has been shown to promote cell motility in culture (PMID: 22114072).
G266R missense loss of function - predicted TP53 G266R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G266R is predicted to confer a loss of function to the Tp53 protein, as demonstrated by decreased transactivation activity in cell culture (PMID: 16827139).
G266V missense unknown TP53 G266V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G266V has been identified in sequencing studies (PMID: 21094160, PMID: 20010306, PMID: 28240049), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
G279fs frameshift loss of function - predicted TP53 G279fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 279 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), G279fs is predicted to lead to a loss of Tp53 protein function.
G279Pfs*69 frameshift loss of function - predicted TP53 G279Pfs*69 indicates a shift in the reading frame starting at amino acid 279 and terminating 69 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), G279Pfs*69 is predicted to lead to a loss of Tp53 protein function.
G279V missense unknown TP53 G279V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G279V results in decreased Tp53 transcriptional activity in yeast assays (PMID: 11429700, PMID: 12917626), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 function is unknown (PubMed, Apr 2021).
G279_R282del deletion unknown TP53 G279_R282del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 279 to 282 (UniProt.org). G279_R282del has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
G334R missense unknown TP53 G334R lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). The functional effect of G334R is conflicting as it demonstrates Tp53 transactivation activity in a luciferase assay and suppresses colony formation in cell culture (PMID: 25584008), however, results in similar induction of MDM2 and p21, but decreased transactivation of a subset of Tp53 target genes including PCLO, PLTP, PLXNB3, and LCN15 with Nutlin treatment and decreased colony suppression in another study (PMID: 32675277), and therefore, its effect on Tp53 protein function is unknown.
G334W missense unknown TP53 G334W lies within the hinge residue of the oligomerization domain of the Tp53 protein (PMID: 16007150). G334W results in a loss of Tp53 transactivation activity in yeast (PMID: 16007150), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 function is unknown.
G360A missense no effect TP53 G360A lies within the CARM1, HIPK1, HIPK2, and USP7 interacting regions of the Tp53 protein (UniProt.org). G360A demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587).
G360V missense gain of function - predicted TP53 G360V lies within the CARM1, HIPK1, HIPK2, and USP7-interacting regions of the Tp53 protein (UniProt.org). G360V results in colony growth similar to wild-type Tp53 (PMID: 33257846), but demonstrates increased transactivation of Tp53 response elements, decreased colony growth, and increased apoptosis in cultured cells in another study (PMID: 27297285), and therefore, is predicted to result in a gain of Tp53 protein function.
H168D missense unknown TP53 H168D lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H168D has been identified in sequencing studies (PMID: 10709097), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
H168N missense no effect TP53 H168N lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H168N demonstrates DNA-binding ability and exonuclease activity comparable to wild-type Tp53 in cell-free assays (PMID: 19462533).
H168Q missense unknown TP53 H168Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H168Q does not exert a dominant-negative effect on wild-type Tp53 in a yeast assay (PMID: 10519380), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
H168R missense loss of function TP53 H168R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H168R confers a loss of function to the Tp53 protein, as demonstrated by decreased Tp53 transactivation activity and decreased induction of apoptosis in cell culture (PMID: 18996393).
H178N missense unknown TP53 H178N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H178N has been identified in the scientific literature (PMID: 19106606, PMID: 26366557), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H178R missense unknown TP53 H178R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H178R has been identified in sequencing studies (PMID: 21232794), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H179D missense unknown TP53 H179D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179D has been identified in sequencing studies (PMID: 28557976, PMID: 24128716), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H179L missense loss of function - predicted TP53 H179L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H179L is predicted to confer a loss of function to the Tp53 protein, as demonstrated by transformation in culture and promoting tumor formation and invasion in animal models (PMID: 9049183).
H179N missense loss of function TP53 H179N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179N results in similar Tp53 exonuclease activity compared to wild-type, but leads to decreased DNA binding in an in vitro assay, and decreased apoptotic response to X-Ray in Drosophila expressing the corresponding variant (H159N), and decreased activation of Tp53 target genes in cultured cellls (PMID: 10778859, PMID: 19462533, PMID: 27813088).
H179P missense unknown TP53 H179P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179P has been identified in the scientific literature (PMID: 29483209, PMID: 25716545), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H179Q missense loss of function TP53 H179Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179Q results in decreased Tp53 transactivation activity and disruption of the G1 checkpoint in cell culture (PMID: 16209708, PMID: 22540896).
H179R missense loss of function TP53 H179R lies within the DNA binding region of the Tp53 protein (UniProt.org). H179R results in a loss of Tp53 protein function as indicated by failure to activate downstream gene transcription and increased survival (PMID: 17361096, PMID: 26585234), and also induces cancer gene signature through activation of Ras signaling (PMID: 22427690).
H179Y missense loss of function TP53 H179Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H179Y confers a loss of function to the Tp53 protein as indicated by decreased transactivation of Tp53 targets, decreased growth suppression activity, decreased suppression of Nrf2 expression, and increased Ccna1 and Cdk4 expression and cell proliferation in culture (PMID: 17530187, PMID: 12509279, PMID: 26497680).
H193L missense unknown TP53 H193L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193L has been identified in the scientific literature (PMID: 21056685, PMID: 19944185), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H193P missense loss of function TP53 H193P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). H193P results in a loss of Tp53 transactivation activity and inability to suppress colony formation in cell culture (PMID: 25584008).
H193Q missense unknown TP53 H193Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193Q has been identified in the scientific literature (PMID: 23200980), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H193R missense loss of function - predicted TP53 H193R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193R has not been biochemically characterized in human cells, but results in decreased Tp53 transactivation ability in yeast assays and is predicted to result in decreased Tp53 stability and protein expression by computational modeling (PMID: 9627118, PMID: 21763698), and therefore, is predicted to result in a loss of Tp53 protein function.
H193Y missense unknown TP53 H193Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193Y is associated with reduced expression levels of CDKN1A mRNA and Fdxr protein in cell culture (PMID: 31500291), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
H214Qfs*7 frameshift loss of function - predicted TP53 H214Qfs*7 indicates a shift in the reading frame starting at amino acid 214 and terminating 7 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), H214Qfs*7 is predicted to lead to a loss of Tp53 protein function.
H214R missense gain of function - predicted TP53 H214R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H214R results in increased IL-6 expression and colony formation compared to wild-type Tp53 in cell culture (PMID: 11920959), and therefore, is predicted to result in a gain of Tp53 protein function.
H214Y missense unknown TP53 H214Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H214Y has been identified in the scientific literature (PMID: 26586531), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H296Y missense unknown TP53 H296Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H296Y has been identified in sequencing studies (PMID: 27288520), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H297L missense unknown TP53 H297L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297L has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H297P missense unknown TP53 H297P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
H297R missense unknown TP53 H297R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297R has been identified in sequencing studies (PMID: 28667006), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
I162F missense unknown TP53 I162F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I162F results in a reduced induction of p21 upon irradiation of patient cells (PMID: 21115975), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
I195* nonsense loss of function - predicted TP53 I195* results in a premature truncation of the Tp53 protein at amino acid 195 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), I195* is predicted to result in a loss of Tp53 protein function.
I195F missense unknown TP53 I195F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195F has been identified in sequencing studies (PMID: 30613367, PMID: 27276561, PMID: 25534115), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
I195M missense unknown TP53 I195M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195M has been identified in the scientific literature (PMID: 26870891), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
I195S missense unknown TP53 I195S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I195S demonstrates a loss of Tp53 transactivation activity in a yeast assay (PMID: 23897043), but has not been characterized in human cells and therefore its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
I195T missense unknown TP53 I195T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I195T results in destabilization of the Tp53 protein, an increased rate of protein aggregation (PMID: 12700230), and reduced DNA binding ability relative to wild-type Tp53 in an in vitro assay (PMID: 11782540), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
I232S missense loss of function TP53 I232S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I232S results in a loss of Tp53 DNA-binding ability and transcriptional activity in cell culture (PMID: 21643018).
I232T missense loss of function - predicted TP53 I232T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I232T results in similar 53bp2 binding (PMID: 15611070), but decreased thermal stability and DNA-binding affinity in in vitro assays (PMID: 10713666), and therefore, is predicted to lead to a loss of Tp53 protein function.
I251M missense unknown TP53 I251M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I251M has been identified in the scientific literature (PMID: 28838384), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
I251S missense unknown TP53 I251S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I251S confers similar sensitivity to mutant Tp53-targeted therapeutics compared to cells with characterized Tp53 mutations in culture (PMID: 26748848), however, has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
I254N missense loss of function - predicted TP53 I254N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I254N results in temperature-dependent alterations in Tp53 transactivation activity with decreased transactivation at physiological temperatures (PMID: 20505364), and is associated with Tp53 over expression in patient-derived samples (PMID: 26564006), and therefore, is predicted to result in a loss of Tp53 protein function.
I254T missense loss of function TP53 I254T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I254T results in decreased Tp53 transactivation activity and reduced ability to suppress colony formation in cell culture (PMID: 25584008).
I254V missense no effect - predicted TP53 I254V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I254V results in colony growth and induction of apoptosis similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
I255del deletion loss of function TP53 I255del results in the deletion of one amino acid in the DNA-binding domain of the Tp53 protein at amino acid 255 (PMID: 15510160). I255del results in decreased Tp53 transcriptional activity in a reporter assay and reduced growth suppression in cell culture (PMID: 30886117).
I255N missense unknown TP53 I255N lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I255N has been identified in the scientific literature (PMID: 32945487), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
I255S missense unknown TP53 I255S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I255S results in decreased transactivation activity in a yeast assay (PMID: 12826609), but has not been characterized in human cells and therefore its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
I332fs*14 frameshift loss of function TP53 I332fs*14 indicates a shift in the reading frame starting at amino acid 332 and terminating 14 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). I332fs*14 induces DNA-damage related senescence in one of two cell lines, however, results in increased Tp53 stability and nuclear localization, and decreased oligomerization, DNA binding, and transactivation of Tp53 targets, and leads to altered cell cycle in cultured cells (PMID: 34045312).
I332N missense unknown TP53 I332N lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). I332N results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
I332S missense unknown TP53 I332S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). I332S results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
I332T missense unknown TP53 I332T lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). I332T results in decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
I50S missense unknown TP53 I50S lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). I50S has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
inact mut unknown loss of function TP53 inact mut indicates that this variant results in a loss of function of the Tp53 protein. However, the specific amino acid change has not been identified.
K101N missense unknown TP53 K101N lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). K101N has been identified in the scientific literature (PMID: 20847049), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K101Q missense unknown TP53 K101Q lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). K101Q has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K120* nonsense loss of function - predicted TP53 K120* results in a premature truncation of the Tp53 protein at amino acid 120 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), K120* is predicted to lead to a loss of Tp53 protein function.
K120A missense loss of function TP53 K120A lies within the DNA binding region of the Tp53 protein (UniProt.org). K120A results in impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770), and results in decreased DNA binding and transactivation of Tp53 targets when expressed at physiological levels in culture (PMID: 16687402).
K120E missense loss of function TP53 K120E lies within the DNA binding region of the Tp53 protein (UniProt.org). K120E confers a loss of function to the Tp53 protein as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak, decreased transactivation of Tp53 targets, reduced apoptotic signaling, and decreased colony suppression activity compared to wild-type Tp53 in cell culture (PMID: 18524770, PMID: 27341992).
K132E missense unknown TP53 K132E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132E results in increased Tp53 protein stability, but induces similar processing of miR-18a, expression of Er-alpha, and cell proliferation as wild-type Tp53 (PMID: 24975878), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
K132N missense loss of function - predicted TP53 K132N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132N results in elevation of ZMAT3 transcription similar, but fails to enhance CDKN1A or ATF3 expression compared to wild-type Tp53 in cultured cells (PMID: 31637714), and therefore, is predicted to result in a loss of Tp53 protein function.
K132Q missense unknown TP53 K132Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132Q results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 12779080), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K132R missense unknown TP53 K132R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132R is associated with tumor formation in mouse models (PMID: 32784519), but has not been biochemically characterized and therefore, it effect on Tp53 protein function is unknown.
K132T missense unknown TP53 K132T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132T has been identified in sequencing studies (PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
K139fs frameshift loss of function - predicted TP53 K139fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 139 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), K139fs is predicted to lead to a loss of Tp53 protein function.
K139M missense unknown TP53 K139M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K139M has been identified in sequencing studies (PMID: 30578357), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K139R missense no effect - predicted TP53 K139R lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). K139R results in slightly reduced Tp53 ubiquitination, but demonstrates transcriptional activity similar to wild-type Tp53 in a reporter assay (PMID: 16446403), and therefore, is predicted to have no effect on Tp53 protein function.
K164M missense loss of function - predicted TP53 K164M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164M is associated with reduced expression of the Tp53 target gene Cdkn1a (p21Cip1) in human tumor samples (PMID: 8797864), and therefore, is predicted to result in a loss of Tp53 protein function.
K164N missense unknown TP53 K164N lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). K164N has been identified in the scientific literature (PMID: 16546179, PMID: 30766968), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K164Q missense unknown TP53 K164Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164Q has been identified in the scientific literature (PMID: 9218731), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K164T missense unknown TP53 K164T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164T has been identified in sequencing studies (PMID: 30123427), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K24I missense unknown TP53 K24I lies within the CCAR2 and HRMT1L2-interacting and transcription activation regions of the Tp53 protein (UniProt.org). K24I has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K24Nfs*20 frameshift loss of function - predicted TP53 K24Nfs*20 indicates a shift in the reading frame starting at amino acid 24 and terminating 20 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), K24Nfs*20 is predicted to lead to a loss of Tp53 protein function.
K291E missense gain of function - predicted TP53 K291E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K291E is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
K291Q missense gain of function - predicted TP53 K291Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K291Q is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
K291T missense gain of function - predicted TP53 K291T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K291T is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
K292I missense gain of function - predicted TP53 K292I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K292I is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
K292Q missense unknown TP53 K292Q lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). K292Q has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
K292T missense gain of function - predicted TP53 K292T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K292I is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
K305M missense unknown TP53 K305M lies within the nuclear localization signal region of the Tp53 protein (PMID: 15510160). K305M results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 10719737), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
K305N missense unknown TP53 K305N lies within the nuclear localization signal region of the Tp53 protein (PMID: 15510160). K305N results in a loss of nuclear localization of Tp53, but retains the ability to interact with wild-type Tp53 and Mdm2 (PMID: 11127820), demonstrates variable cellular localization under stress conditions in culture (PMID: 16115632), and reduced cellular invasion and radiation-induced cell death similar to wild-type in culture (PMID: 28377455), and therefore, its effect on Tp53 protein function is unknown.
K305T missense unknown TP53 K305T lies within the nuclear localization signal region of the Tp53 protein (PMID: 15510160). K305T has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
K319E missense unknown TP53 K319E lies within the CCAR2, HIPK1, CARM1, and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K319E has been identified in sequencing studies (PMID: 29085664), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
K319R missense unknown TP53 K319R lies within the CCAR2, HIPK1, HIPK2, and CARM1-interacting regions and bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K319R leads to a decrease in the post-translational modification, beta-hydroxybutyrylation, relative to wild-type Tp53 in culture (PMID: 30858356), but shows similar levels of Daxx binding relative to wild-type Tp53 in yeast (PMID: 15364927), and therefore, its effect on Tp53 protein function is unknown.
K320E missense unknown TP53 K320E lies within the bipartite nuclear localization signal of the Tp53 protein (UniProt.org). K320E demonstrates protein expression similar to wild-type Tp53 in culture (PMID: 21232794), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
K320Q missense loss of function TP53 K320Q lies within the bipartite nuclear localization signal of the Tp53 protein (UniProt.org). K320Q is able to activate p21, but results in alterations in other Tp53 transcriptional and repressive activities, and leads to resistance to apoptosis in cell culture (PMID: 15831478, PMID: 16717128).
K320R missense loss of function TP53 K320R lies within the bipartite nuclear localization signal of the Tp53 protein (UniProt.org). K320R leads to decreased activation of select Tp53 targets and resistance to apoptosis in cell culture (PMID: 14695212, PMID: 15831478).
K320T missense loss of function - predicted TP53 K320T lies within the bipartite nuclear localization signal of the Tp53 protein (UniProt.org). K320T results in defective nuclear localization of Tp53 in cell culture (PMID: 23416275, PMID: 22380534), and therefore, is predicted to result in a loss of Tp53 protein function.
K321E missense unknown TP53 K321E lies within the HIPK1, CARM1 and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K321E has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
K321R missense unknown TP53 K321R lies within the HIPK1, CARM1, and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K321R maintains acetylation in vitro (PMID: 9891054) and Daxx binding similar to the level of wild-type Tp53 in yeast (PMID: 15364927), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
K351E missense loss of function - predicted TP53 K351E lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351E results in a dimeric Tp53 protein and decreased protein stability in solution (PMID: 12433927), is transcriptionally inactive in yeast (PMID: 16007150), and results in decreased growth suppression in cell culture (PMID: 9125151), and therefore, is predicted to lead to a loss of Tp53 protein function.
K351N missense loss of function TP53 K351N lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351N demonstrates a similar half-life compared to wild-type Tp53, but results in decreased Tp53 tetramerization, and impairs nuclear export of Tp53 in cultured cells, and results in decreased Tp53 transcriptional activity in reporter assays (PMID: 19806023)
K351Q missense loss of function - predicted TP53 K351Q lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351Q results in decreased Tp53-mediated transcription of p21 in cell culture (PMID: 27210019), and therefore, is predicted to lead to a loss of Tp53 protein function.
K351R missense no effect - predicted TP53 K351R lies lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). K351R maintains Tp53-mediated transcription of p21 in cell culture (PMID: 27210019), and therefore, is predicted to have no effect on Tp53 protein function.
K357Q missense no effect - predicted TP53 K357Q lies within the HIPK1, CARM1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). K357Q results in similar Tp53-mediated transcription of p21 compared to wild-type Tp53 in cultured cells (PMID: 27210019), and therefore, is predicted to have no effect on Tp53 protein function.
K357R missense loss of function - predicted TP53 K357R lies within the HIPK1, CARM1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). K357R results in decreased Tp53-mediated transcription of p21 in cultured cells (PMID: 27210019), and therefore, is predicted to lead to a loss of Tp53 protein function.
L111fs frameshift loss of function - predicted TP53 L111fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 111 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), L111fs is predicted to lead to a loss of Tp53 protein function.
L111M missense unknown TP53 L111M lies within the DNA-binding domain and the CCAR2, HIPK1, and ZNF385A-interacting region of the Tp53 protein (UniProt.org). L111M has been identified in sequencing studies (PMID: 26933808), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L111P missense unknown TP53 L111P lies within the DNA-binding domain and CCAR2, HIPK1, and ZNF385A-interacting region of the Tp53 protein (UniProt.org). L111P has been identified in sequencing studies (PMID: 18772396, PMID: 27499911), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L111Q missense unknown TP53 L111Q lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). L111Q has been identified in the scientific literature (PMID: 27179933, PMID: 25471132, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
L111Wfs*12 frameshift loss of function TP53 L111Wfs*12 indicates a shift in the reading frame starting at amino acid 111 and terminating 12 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). L111Wfs*12 confers a loss of function on the Tp53 protein, as indicated by minimal transcriptional transactivation activity in a reporter assay, altered subcellular localization, and failure to induce apoptosis in cultured cells (PMID: 31081129).
L114fs frameshift loss of function - predicted TP53 L114fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 114 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), L114fs is predicted to lead to a loss of Tp53 protein function.
L130I missense unknown TP53 L130I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130I has been identified in sequencing studies (PMID: 28949453, PMID: 26319365, PMID: 31754145), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
L130R missense unknown TP53 L130R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130R has been identified in the scientific literature (PMID: 12826609, PMID: 26070072), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
L137M missense unknown TP53 L137M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). L137M has been identified in the scientific literature (PMID: 16183105, PMID: 9349508), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L137Q missense unknown TP53 L137Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L137Q has been identified in sequencing studies (PMID: 33008833, PMID: 28333958), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2021).
L145Q missense unknown TP53 L145Q lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). L145Q is predicted to disrupt DNA binding of Tp53 by structural modeling (PMID: 21561095), but has not been biochemically characterized, and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L194F missense loss of function TP53 L194F lies within the DNA binding domain of the Tp53 protein (UniProt.org). L194F confers a loss of function to the Tp53 protein, as demonstrated by decreased Tp53 transactivation activity and decreased binding to Bcl2 in cell culture (PMID: 16443602).
L194R missense loss of function TP53 L194R lies within the DNA binding domain of the Tp53 protein (UniProt.org). L194R results in decreased wild-type Tp53 transactivation activity and loss of growth suppression activity, and also confers a gain of function to Tp53 resulting in aberrant activation of ASNS and hTERT in culture (PMID: 12509279, PMID: 15077194).
L206F missense unknown TP53 L206F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L206F has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
L22P missense unknown TP53 L22P lies within the HRMT1L2 and CCAR2-interacting and transcription activation regions of the Tp53 protein (UniProt.org). L22P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L265P missense loss of function - predicted TP53 L265P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L265P results in decreased Tp53 transactivation in cultured cells (PMID: 16861262), and therefore, is predicted to lead to a loss of Tp53 protein function.
L265V missense unknown TP53 L265V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L265V has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L289D missense loss of function - predicted TP53 L289D lies within the DNA-binding region of the Tp53 protein (PMID: 22713868). L289D is predicted to confer a loss of function to the Tp53 protein as demonstrated by reduced oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770).
L299R missense unknown TP53 L299R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L299R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L308R missense unknown TP53 L308R lies within the HIPK1, CCAR2, and CARM1-interacting regions of the Tp53 protein (UniProt.org). L308R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
L323R missense unknown TP53 L323R lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). L323R has been identified in sequencing studies (PMID: 10225439), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
L323V missense no effect - predicted TP53 L323V lies within the CARM1 and HIPK2-interacting regions of the Tp53 protein (UniProt.org). L323V results in colony growth similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
L330A missense loss of function TP53 L330A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330A results in a monomeric Tp53 protein and altered subcellular localization in cultured cells, and decreased MDM2-mediated mono- and polyubiquitination in an in vitro assay (PMID: 29549180).
L330H missense loss of function TP53 L330H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330H results in decreased Tp53 tetramerization and transcriptional activity in cell culture (PMID: 19454241, PMID: 9766574).
L330P missense loss of function TP53 L330P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330P results in altered Tp53 tetramerization, decreased stability, and decreased ubiquitin-mediated degradation of Tp53 in cultured cells, and decreased activation of p21 and Bax transcription in reporter assays (PMID: 24816189).
L330R missense loss of function TP53 L330R lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330R results in decreased Tp53 tetramerization and loss of Tp53 transcriptional activity in cell culture (PMID: 19454241, PMID: 24816189).
L344A missense loss of function TP53 L344A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344A results in increased binding to the N-terminal domain of Mdm2 in an in vitro assay, increased cytoplasmic localization of Tp53 in the presence of Mdm2 in cultured cells (PMID: 29549180), decreased oligomerization (PMID: 30174797), and decreased activation of the downstream target genes Mdm2, Puma, Noxa and Ddb2 in cultured cells (PMID: 24006363).
L344P missense loss of function TP53 L344P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344P results in decreased Tp53 tetramerization and transcriptional activity, reduced expression of Tp53 target genes, and demonstrates partial colony suppression ability in cell culture (PMID: 19454241, PMID: 9125151, PMID: 20080630).
L344Q missense loss of function - predicted TP53 L344Q lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344Q results in decreased Tp53 oligomer formation and transcriptional activity in yeast (PMID: 16007150), and the corresponding canine variant (L332Q) demonstrates impaired tetramerization, but not dimerization (PMID: 29750295), and therefore, is predicted to result in a loss of Tp53 protein function.
L344R missense loss of function TP53 L344R lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344R results in a decreased Tp53 tetramerization and transcriptional activity in cell culture (PMID: 19454241, PMID: 20505364).
L348A missense loss of function - predicted TP53 L348A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L348A results in altered oligomerization of Tp53 in in vitro assays, increased Mdm2-mediated degradation, and decreased Tp53 ubiquitination in cultured cells (PMID: 29549180), and therefore, is predicted to lead to a loss of Tp53 protein function.
L348S missense loss of function TP53 L348S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L348S results in decreased Tp53 tetramerization and thermal stability in in vitro assays (PMID: 20978130), and therefore, is predicted to lead to a loss of Tp53 protein function.
L350P missense loss of function TP53 L350P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L350P results in decreased binding to Tfap2a, decreased Tp53 transactivation activity in a reporter assay, and decreased induction of p21 gene expression in cell culture (PMID: 16288208).
loss unknown loss of function TP53 loss indicates loss of the TP53 gene, mRNA, and protein.
M133K missense loss of function - predicted TP53 M133K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M133K results in STAT5 activation similar to wild-type Tp53 in a reporter assay, but does not bind to the Tp53 target genes, MDM2, p53R2, GADD45, BAX, and p21 (PMID: 24681953), and therefore is predicted to result in a loss of Tp53 protein function.
M160K missense unknown TP53 M160K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M160K has been identified in sequencing studies (PMID: 26837699, PMID: 26205736, PMID: 33257044), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2021).
M160R missense unknown TP53 M160R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M160R has been identified in the scientific literature (PMID: 14559903), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
M237I missense loss of function TP53 M237I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M237I results in decreased DNA binding and Tp53 transactivation activity, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 16492679, PMID: 20080630, PMID: 31395785).
M237K missense unknown TP53 M237K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M237K has been identified in the scientific literature (PMID: 32164171, PMID: 25185240), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
M237V missense unknown TP53 M237V lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). M237V demonstrates partial transcriptional activity compared to wild-type Tp53 (Blood (2019) 134 (Supplement_1): 5405), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
M237_S241del deletion unknown TP53 M237_S241del results in the deletion of five amino acids in the DNA-binding domain of the Tp53 protein (PMID: 22713868). M237_S241del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
M243T missense unknown TP53 M243T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M243T results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
M246A missense unknown TP53 M246A lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M246A results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
M246I missense loss of function TP53 M246I lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M246I confers a loss of function on Tp53 protein as indicated by reduced DNA binding, decreased transcription activity, and failure to induce apoptosis in cell culture (PMID: 10777217).
M246K missense loss of function TP53 M246K lies within the DNA binding domain of the Tp53 protein (UniProt.org). M246K results in decreased activation of Tp53 target gene expression and increased tumor formation in zebrafish models (PMID: 15630097).
M246R missense loss of function - predicted TP53 M246R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M246R results in a loss of Tp53 binding to SV40 large T-antigen (LTag) (PMID: 16951253), and therefore, is predicted to result in a loss of Tp53 protein function.
M246T missense unknown TP53 M246T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M246T results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
M40fs frameshift loss of function - predicted TP53 M40fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 40 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), M40fs is predicted to lead to a loss of Tp53 protein function.
M44fs frameshift loss of function - predicted TP53 M44fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 44 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), M44fs is predicted to lead to a loss of Tp53 protein function.
mutant unknown unknown TP53 mutant indicates an unspecified mutation within the TP53 gene.
N131D missense unknown TP53 N131D lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N131D has been identified in sequencing studies (PMID: 24405831), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N131fs frameshift loss of function - predicted TP53 N131fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 131 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA binding domain and the loss of the oligomerization domain (UniProt.org, N131fs is predicted to lead to a loss of Tp53 protein function.
N131K missense unknown TP53 N131K lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N131K has been identified in the scientific literature (PMID: 30206212, PMID: 29979965, PMID: 28222664), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N131S missense unknown TP53 N131S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N131S has been identified in the scientific literature (PMID: 29979965, PMID: 24330579), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N131T missense unknown TP53 N131T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N131T has been identified in the scientific literature (PMID: 29979965, PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N200K missense unknown TP53 N200K lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N200K has been identified in the scientific literature (PMID: 29979965, PMID: 23200980), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N210Kfs*37 frameshift loss of function TP53 N210Kfs*37 indicates a shift in the reading frame starting at amino acid 210 and terminating 37 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). N210Kfs*37 is associated with loss of Tp53 expression and increased proliferation in cultured patient-derived cells, and with tumor formation in mouse models (PMID: 32784519), and due to the loss of the oligomerization domain (UniProt.org), is predicted to lead to a loss of Tp53 protein function.
N235D missense loss of function TP53 N235D lies within the DNA binding domain and the HIPK1, ZNF385A, FBXO42 and AXIN1 interaction region of the Tp53 protein (UniProt.org). N235D results in decreased Tp53 transactivation activity and fails to suppress colony formation in cell culture (PMID: 25584008).
N235S missense no effect - predicted TP53 N235S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N235S results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
N235Y missense unknown TP53 N235Y lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N235Y has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N239D missense unknown TP53 N239D lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239D results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N239I missense unknown TP53 N239I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N239I has been identified in the scientific literature (PMID: 29625247, PMID: 28477877, PMID: 22493262), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N239S missense loss of function TP53 N239S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239S (corresponding to N236S in mouse) results in a loss of promoter binding and transactivation of TP53 target genes in response to irradiation in mouse cells in culture, and cooperates with HRAS G12V to promote tumor formation in mouse models (PMID: 22553460).
N239T missense unknown TP53 N239T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239T results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N247D missense unknown TP53 N247D lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N247D has been identified in the scientific literature (PMID: 22866089, PMID: 21232794, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N263D missense no effect TP53 N263D lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N263D demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587).
N268I missense unknown TP53 N268I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). N268I has been identified in the scientific literature (PMID: 23200980, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N288D missense unknown TP53 N288D lies within the DNA-binding domain and HIPK1, ZNF385A, AXIN1 and E4F1-interacting region of the Tp53 protein (PMID: 15510160, UniProt.org). N288D results in decreased Tp53 transcriptional activity in yeast (PMID: 12909720), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N30fs frameshift loss of function - predicted TP53 N30fs results in a change in the amino acid sequence of the Tp53 protein beginning at 30 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), N30fs is predicted to lead to a loss of Tp53 protein function.
N310H missense unknown TP53 N310H lies within the CCAR2, HIPK1, and CARM1-interacting regions of the Tp53 protein (UniProt.org). N310H has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N310I missense unknown TP53 N310I lies within the CCAR2, HIPK1, and CARM1-interacting region and bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). N310I has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N310S missense unknown TP53 N310S lies within the HIPK1, CCAR2, and CARM1-interacting region and bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). N310S has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
N311S missense no effect TP53 N311S lies within the linker region of the Tp53 protein (PMID: 24076587). N311S results in DNA-binding activity, apoptotic activity, and activation of STAT4 similar to wild-type Tp53 in culture (PMID: 24076587).
N345* nonsense loss of function TP53 N345* results in a premature truncation of the Tp53 protein at amino acid 345 of 393 (UniProt.org). N345* demonstrates oligomerization potential, but results in increased Tp53 nuclear localization and protein stability, decreased DNA binding, and loss of Tp53 transactivation activity in cultured cells (PMID: 34045312).
N345D missense unknown TP53 N345D lies within the HIPK1, CARM1 and HIPK2-interacting region, oligomerization region, and nuclear export signal motif of the Tp53 protein (UniProt.org). N345D results in impaired tetramerization and is transcriptionally inactive in yeast (PMID: 16007150), but has not been functionally characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
N345fs*26 frameshift loss of function TP53 N345fs*26 indicates a shift in the reading frame starting at amino acid 345 and terminating 26 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). N345fs*26 demonstrates oligomerization potential, but results in increased Tp53 nuclear localization and protein stability, decreased DNA binding, and loss of Tp53 transactivation activity in cultured cells (PMID: 34045312).
N345Y missense unknown TP53 N345Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). N345Y results in predominantly monomeric Tp53, but retains transactivation activity in yeast assays (PMID: 16007150), but has has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
negative unknown loss of function TP53 negative indicates a lack of the TP53 gene, mRNA, and/or protein.
over exp none no effect TP53 over exp indicates an over expression of the Tp53 protein. However, the mechanism causing the over expression is unspecified.
P128fs frameshift loss of function - predicted TP53 P128fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 128 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), P128fs is predicted to lead to a loss of Tp53 protein function.
P12S missense unknown TP53 P12S lies within the transactivation domain of the Tp53 protein (PMID: 21760703). P12S has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P142L missense unknown TP53 P142L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P142L is unable to transactivate reporter genes in yeast assays (PMID: 17311302), but has not been functionally characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
P151H missense loss of function TP53 P151H lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). P151H confers a loss of function to the Tp53 protein as demonstrated by decreased transactivation of select Tp53 targets and inability to repress autophagy in cell culture (PMID: 22673234, PMID: 18818522, PMID: 27533082).
P151L missense unknown TP53 P151L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P151L has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P151R missense unknown TP53 P151R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P151R has been identified in the scientific literature (PMID: 28744014), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P151S missense loss of function TP53 P151S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P151S results in a loss of Tp53 transactivation activity and resistance to anoikis in cell culture, and promotes tumor growth in xenograft models (PMID: 21903770, PMID: 23625637).
P152fs frameshift loss of function - predicted TP53 P152fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 152 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), P152fs is predicted to lead to a loss of Tp53 protein function.
P152L missense loss of function TP53 P152L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P152L results in decreased DNA binding (PMID: 31366730), decreased Tp53 transactivation activity, inability to suppress colony formation (PMID: 25584008, PMID: 31366730), and increased cell migration in culture (PMID: 31366730).
P177A missense unknown TP53 P177A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P177A has been identified in the scientific literature (PMID: 29979965, PMID: 30337457), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P177L missense unknown TP53 P177L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P177L demonstrates transactivation activity similar to wild-type Tp53 in a yeast assay (PMID: 9627118), but has not been characterized in human cells and therefore its effect on Tp53 protein function is unknown.
P177S missense unknown TP53 P177S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P177S has been identified in the scientific literature (PMID: 11896595, PMID: 29979965, PMID: 26319365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P177T missense loss of function TP53 P177T lies within the DNA binding domain of the Tp53 protein (UniProt.org). P177T results in a loss of Tp53 function as indicated by inability to bind DNA or activate transcription in cell culture (PMID: 21643018).
P177_E180del deletion unknown TP53 P177_E180del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 177 to 180 (UniProt.org). P177_E180del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
P190A missense unknown TP53 P190A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P190A has been identified in the scientific literature (PMID: 29979965, PMID: 29872864), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P190L missense unknown TP53 P190L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). P190L results in decreased transactivation of the Tp53 target gene, TLR3, but increased transactivation of TLR5 compared to wild-type Tp53 in cultured cells (PMID: 27533082), and therefore, its effect on Tp53 protein function is unknown.
P190R missense loss of function - predicted TP53 P190R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P190R results in a partial loss of transactivation in a reporter assay (PMID: 28499267), and fails to activate the TREM2 promoter (PMID: 29842899), and therefore, is predicted to lead to a loss of Tp53 protein function.
P190S missense loss of function TP53 P190S lies within the DNA binding domain of the Tp53 protein (UniProt.org). P190S confers a loss of function to the Tp53 protein, as demonstrated by decreased suppression of Vimentin mRNA expression, decreased ability to suppress cell viability, increased cell migration, and increased cell invasion in cell culture (PMID: 28408749).
P190T missense unknown TP53 P190T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P190T has been identified in the scientific literature (PMID: 29979965, PMID: 28914715), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P191fs frameshift loss of function - predicted TP53 P191fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 191 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA binding domain and loss of the oligomerization domain, P191fs is predicted to lead to a loss of Tp53 protein function.
P191R missense unknown TP53 P191R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P191R results in decreased transactivation of Tp53 response elements in a reporter assay but maintains colony growth similar to wild-type Tp53 in cultured cells (PMID: 27297285), and therefore, its effect on Tp53 protein function is unknown.
P219fs frameshift loss of function - predicted TP53 P219fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 219 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P219fs results in complete loss of Tp53 expression in patient cells (PMID: 25231023), and due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), P219fs is predicted to lead to a loss of Tp53 protein function.
P219S missense loss of function TP53 P219S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P219S results in decreased Tp53 transactivation activity and inability to suppress colony formation in cell culture (PMID: 25584008).
P222L missense no effect - predicted TP53 P222L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P222L results in colony growth and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
P223L missense unknown TP53 P223L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). The functional effect of P223L is conflicting, as it results in DNA-binding, cellular senescence, expression of Tp53 targets, and acetylation of Tp53 similar to wild-type Tp53 in culture in one study (PMID: 27911860), however, in another study, demonstrates decreased Tp53 transactivation and reduced expression of the Tp53 target p21 in culture (PMID: 16741917), and therefore, its effect on Tp53 protein function is unknown.
P223R missense unknown TP53 P223R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P223R has been identified in the scientific literature (PMID: 21197471, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P223T missense unknown TP53 P223T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P223T has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P250L missense loss of function TP53 P250L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P250L results in aggregation and decreased nuclear localization of Tp53, demonstrates decreased Tp53 transactivation activity, and interferes with wild-type Tp53 transactivation activity in cell culture (PMID: 21445056).
P278A missense loss of function TP53 P278A lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P278A results in a loss of Tp53 transcription activity in a reporter assay, decreased DNA binding, and failure to induce apoptosis in cell culture (PMID: 24076587).
P278F missense unknown TP53 P278F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278F has been identified in the scientific literature (PMID: 8514460, PMID: 32936072), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
P278H missense unknown TP53 P278H lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P278H has been identified in the scientific literature (PMID: 27022024, PMID: 25151357, PMID: 30978502), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
P278L missense unknown TP53 P278L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278L results in a loss of transactivation activity in yeast assays (PMID: 16861262), but has not been biochemically characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
P278R missense loss of function - predicted TP53 P278R lies within the DNA-binding domain of the Tp53 protein (UniProt.org). P278R (corresponding to P275R in mouse) fails to induce expression of Tp53 target genes p21 and Noxa (PMID: 20195489), and therefore, is predicted to result in a loss of Tp53 protein function.
P278S missense loss of function TP53 P278S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278S results in the loss of Tp53 transactivation of p21, while retaining activation of Axl in cell culture, and promotes tumor growth in xenograft models (PMID: 22989750), and in mouse cells harboring the equivalent mouse variant (P275S), results in decreased activation of Tp53 target genes and reduced apoptotic response following DNA damage (PMID: 11867759).
P27Lfs*17 frameshift loss of function - predicted TP53 P27Lfs*17 indicates a shift in the reading frame starting at amino acid 27 and terminating 17 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), P27Lfs*17 is predicted to lead to a loss of Tp53 protein function.
P295A missense unknown TP53 P295A lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P295A has been identified in sequencing studies (PMID: 25605254), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P295L missense unknown TP53 P295L lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P295L has been identified in the scientific literature (PMID: 26373574, PMID: 22866089), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P295S missense no effect - predicted TP53 P295S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P295S results in colony growth similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
P300A missense unknown TP53 P300A lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300A has been identified in sequencing studies (PMID: 10084308), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P300H missense unknown TP53 P300H lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300H has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P300R missense unknown TP53 P300R lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P301fs frameshift loss of function - predicted TP53 P301fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 301 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), P301fs is predicted to lead to a loss of Tp53 protein function.
P301Q missense unknown TP53 P301Q lies within the CCAR2, HIPK1, and CARM1-interacting regions of the Tp53 protein (UniProt.org). P301Q has been identified in the scientific literature (PMID: 29416736, PMID: 31856745), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P301R missense unknown TP53 P301R lies within the CCAR2, HIPK1, and CARM1-interacting region of the Tp53 protein (UniProt.org). P301R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P309S missense unknown TP53 P309S lies within the CCAR2, HIPK1, and CARM1-interacting regions and the bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). P309S results in constitutive activation of p21 in conjunction with P273H (PMID: 16061257), but has not been individually characterized and therefore, its effect on Tp53 protein function is unknown.
P322A missense unknown TP53 P322A lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322A has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P322Q missense unknown TP53 P322Q lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322Q has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P322R missense unknown TP53 P322R lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322R has been identified in the scientific literature (PMID: 10225439), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P322S missense unknown TP53 P322S lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322S has been identified in the scientific literature (PMID: 25952750), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P359L missense unknown TP53 P359L lies within the CARM1, HIPK1, HIPK2, and USP7-interacting regions of the Tp53 protein (UniProt.org). P359L has been identified in the scientific literature (PMID: 29416736), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P47S missense unknown TP53 P47S lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). P47S is a common polymorphism in Tp53 with conflicting impact on Tp53 function, demonstrating activity similar to wild-type in one study, and reduced transactivation of Tp53 targets and resistance to apoptosis in another (PMID: 25584008, PMID: 27034505), and results in increased iron accumulation in macrophages and decreased antibacterial response in mouse models (PMID: 31980600).
P58R missense no effect - predicted TP53 P58R lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). P58R results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
P72fs frameshift loss of function - predicted TP53 P72fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 72 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), P72fs is predicted to lead to a loss of Tp53 protein function
P72R missense unknown TP53 P72R lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). P72R is a common polymorphism (PMID: 19165225) that decreases Pgc-1a binding, increases mitochondrial function, migration, invasion, and tumor cell metastasis induced by mutant Tp53 in cell culture and in mouse models (PMID: 29463573), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
P77S missense no effect - predicted TP53 P77S lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). P77S results in colony growth similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
P82Gfs*66 frameshift loss of function - predicted TP53 P82Gfs*66 indicates a shift in the reading frame starting at amino acid 82 and terminating 66 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain and the oligomerization domain (PMID: 15510160), P82Rfs*66 is predicted to lead to a loss of Tp53 protein function.
P82Rfs*41 frameshift loss of function - predicted TP53 P82Rfs*41 indicates a shift in the reading frame starting at amino acid 82 and terminating 41 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain and the oligomerization domain (PMID: 15510160), P82Rfs*41 is predicted to lead to a loss of Tp53 protein function.
P87Ifs*54 frameshift loss of function - predicted TP53 P87Ifs*54 indicates a shift in the reading frame starting at amino acid 87 and terminating 54 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), P87Ifs*54 is predicted to lead to a loss of Tp53 protein function.
P98A missense loss of function TP53 P98A lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). P98A results in decreased Tp53 transactivation activity and leads to reduced apoptosis relative to wild-type Tp53 in cell culture (PMID: 22862161, PMID: 20505364).
P98fs frameshift loss of function - predicted TP53 P98fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 98 of 393, likely resulting in premature truncation of the functional protein. Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), P98fs is predicted to lead to a loss of Tp53 protein function.
P98L missense unknown TP53 P98L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P98L has been identified in the scientific literature (PMID: 29765555, PMID: 21118481, PMID: 28838997), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P98R missense unknown TP53 P98R lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). P98R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
P98S missense unknown TP53 P98S lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). P98S has been identified in the scientific literature (PMID: 27311873, PMID: 20404912, PMID: 18818522), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
positive unknown unknown TP53 positive indicates the presence of the TP53 gene, mRNA, and/or protein.
Q100P missense unknown TP53 Q100P lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). Q100P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
Q100R missense unknown TP53 Q100R lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). Q100R has been identified in the scientific literature (PMID: 20847049), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
Q104H missense unknown TP53 Q104H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Q104H results in protein stability similar to wild-type Tp53 in an in vitro assay (PMID: 9843948), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Q136* nonsense loss of function - predicted TP53 Q136* results in a premature truncation of the Tp53 protein at amino acid 136 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), Q136* is predicted to lead to a loss of Tp53 protein function.
Q136L missense unknown TP53 Q136L lies within the DNA-binding domain and CCAR2, HIPK1, ZNF385A, FBXO42, and AXIN1-interacting regions of the Tp53 protein (UniProt.org). Q136L has been identified in sequencing studies (PMID: 25401301, PMID: 22493262), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
Q165* nonsense loss of function - predicted TP53 Q165* results in a premature truncation of the Tp53 protein at amino acid 165 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), Q165* is predicted to lead to a loss of Tp53 protein function.
Q167L missense unknown TP53 Q167L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Q167L has been identified in the scientific literature (PMID: 11275993, PMID: 15050734, PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
Q192* nonsense loss of function - predicted TP53 Q192* results in a premature truncation of the Tp53 protein at amino acid 192 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org, ), Q192* is predicted to lead to a loss of Tp53 protein function.
Q192K missense unknown TP53 Q192K lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Q192K has been identified in the scientific literature (PMID: 22982087, PMID: 9635831), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
Q192L missense unknown TP53 Q192L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Q192L has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2021).
Q317* nonsense loss of function - predicted TP53 Q317* results in a premature truncation of the Tp53 protein at amino acid 317 of 393 (UniProt.org). Due to the loss of the tetramerization domain (PMID: 20978130), Q317* is predicted to lead to a loss of Tp53 function.
Q331* nonsense loss of function - predicted TP53 Q331* results in a premature truncation of the Tp53 protein at amino acid 331 of 393 (UniProt.org). Q331* has not been characterized, however, due to the effects of truncation mutations downstream of Q331 (PMID: 9331090, PMID: 16969106), is predicted to lead to a loss of Tp53 protein function.
Q331H missense unknown TP53 Q331H lies within the tetramerizationdomain of the Tp53 protein (PMID: 20978130). Q331H results in increased thermal stability compared to wild-type Tp53 in an in vitro assay (PMID: 20978130), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Q52Lfs*68 frameshift loss of function - predicted TP53 Q52Lfs*68 indicates a shift in the reading frame starting at amino acid 52 and terminating 68 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), S52Lfs*68 is predicted to lead to a loss of Tp53 protein function.
R110C missense loss of function - predicted TP53 R110C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R110C results in similar induction of caspase-3 cleavage to wild-type Tp53, and induces apoptosis in cultured cells, but demonstrates decreased transactivation activity in a reporter assay, and altered subcellular localization in cell culture (PMID: 31081129), and therefore, is predicted to result in a loss of Tp53 protein function.
R110H missense no effect - predicted TP53 R110H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R110H maintains transcriptional activity and growth suppression similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
R110L missense loss of function TP53 R110L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R110L results in a loss of Tp53 transcription activity in a reporter assay, loss of DNA binding, and failure to induce apoptosis in cell culture (PMID: 24076587).
R110P missense loss of function TP53 R110P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R110P confers a loss of function on the Tp53 protein as indicated by increased aggregation, including aggregation with Tp63, and Tp73, decreased DNA binding and transactivation of Tp53 targets, and decreased Caspase 3/7 activity in culture (PMID: 21445056, PMID: 24076587).
R110Vfs*13 frameshift loss of function - predicted TP53 R110Vfs*13 indicates a shift in the reading frame starting at amino acid 110 and terminating 13 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), R110Vfs*13 is predicted to lead to a loss of Tp53 protein function.
R156C missense no effect - predicted TP53 R156C lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R156C demonstrates similar ability to induce apoptosis to wild-type Tp53 in cultured cells (PMID: 15781620), and therefore, is predicted to have no effect on Tp53 protein function.
R156H missense unknown TP53 R156H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R156H results in transcriptional activity in yeast and suppression of colony growth in human cells similar to wild-type Tp53, however, demonstrates decreased Tp53 protein expression and p21 induction in human cells (PMID: 10435620), and therefore, its effect on Tp53 protein function is unknown.
R156P missense loss of function TP53 R156P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R156P results in a loss of DNA binding and decreased transcriptional activity compare to wild type Tp53 in cell culture (PMID: 8208536).
R158C missense unknown TP53 R158C lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R158C has been identified in the scientific literature (PMID: 25561229, PMID: 30766968, PMID: 9185695), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R158fs frameshift loss of function - predicted TP53 R158fs results in a change in the amino acid sequence of the Tp53 protein beginning at 158 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), R158fs is predicted to lead to a loss of Tp53 protein function.
R158G missense loss of function - predicted TP53 R158G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R158G leads to the loss of DNA-binding activity in an in vitro assay, and interferes with transactivation by wild-type Tp73 in yeast (PMID: 9472631, PMID: 12917626), and therefore, is predicted to result in a loss of Tp53 protein function.
R158H missense loss of function TP53 R158H lies within the DNA binding domain of the Tp53 protein (UniProt.org). R158H results in decreased Tp53 transactivation activity and reduced ability to suppress colony formation in cell culture (PMID: 25584008).
R158L missense loss of function TP53 R158L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). R158L results in decreased Tp53 transactivation activity, as demonstrated by loss of p21 expression and decreased activation of Tp53 target genes, but does not interfere with wild-type Tp53 activity in cell culture (PMID: 16861262, PMID: 25584008, PMID: 31067569), and also results in aberrant gene regulation in cultured cells (PMID: 31067569).
R158P missense loss of function TP53 R158P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R158P results in decreased Tp53 transactivation activity as demonstrated by loss of p21 expression and decreased activation of Tp53 targets in response to a DNA damaging agent, and also results in aberrant gene regulation in cultured cells (PMID: 31067569).
R174G missense unknown TP53 R174G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174G has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R174M missense unknown TP53 R174M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174M has been identified in the scientific literature (PMID: 7767998, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R174Q missense unknown TP53 R174Q lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174Q has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
R175A missense loss of function - predicted TP53 R175A is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175A results in a small decrease in Tp53 DNA-binding affinity and stability in cell culture (PMID: 10713666), and therefore, is predicted to result in a loss of Tp53 protein function.
R175C missense no effect TP53 R175C is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R175C retains wild-type Tp53 function in apoptosis and cell cycle assays (PMID: 9632751, PMID: 24665023).
R175G missense loss of function - predicted TP53 R175G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175G results in decreased Tp53 transactivation activity in cell culture (PMID: 28369373), and therefore, is predicted to result in a loss of Tp53 protein function.
R175H missense loss of function TP53 R175H is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R175H results in a loss of DNA binding, decreased activation of Tp53 targets and interferes with activation by wild-type Tp53, leads to resistance to apoptosis, failure of G1 arrest, decreased genomic stability, and promotes tumorigenesis, and additionally confers a gain of function to Tp53, resulting in aberrant activation of gene transcription and enhanced cell migration (PMID: 10713666, PMID: 22114072, PMID: 19881536, PMID: 14743206, PMID: 31395785).
R175L missense loss of function TP53 R175L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175L results in a decrease in Tp53 transactivation activity and reduced ability to induce apoptosis in cell culture (PMID: 16707427).
R175P missense unknown TP53 R175P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175P (corresponds to R172P in mouse) demonstrates chromosomal stability, cell cycle arrest similar to wild-type Tp53, and induces p21 expression, however, fails to induce apoptosis and reduce colony formation in cultured cells (PMID: 8631304, PMID: 14702042), and therefore, its effect on Tp53 protein function is unknown.
R175X missense unknown TP53 R175X indicates a hotspot mutation resulting in an amino acid change at codon 175 of the Tp53 protein, which often results in a loss of Tp53 protein function.
R181C missense loss of function TP53 R181C lies within the DNA-binding domain and HIPK1, ZNF385A, FBXO42 and AXIN1-interacting region of the Tp53 protein (UniProt.org). R181C is able to transactivate the Tp53 targets p21 and PIG3, but does not transactivate other Tp53 targets including the apoptotic genes BAX and P53AIP1, and leads to decreased induction of apoptosis and enhances transformation in culture (PMID: 10229196, PMID: 20471942).
R181E missense loss of function TP53 R181E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181E results in a loss of DNA binding ability and activation of downstream targets, increased accumulation of Tp53, and fails to induce apoptosis and inhibit proliferation in culture, and induces tumor formation in animal models (PMID: 31483066).
R181G missense unknown TP53 R181G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181G results in altered Tp53 transactivation activity in yeast assays (PMID: 11896595), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
R181H missense no effect - predicted TP53 R181H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R181H results in colony growth similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
R181L missense loss of function TP53 R181L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181L results in cell cycle arrest similar to wild-type Tp53, however, leads to a selective loss of DNA binding and activation of a downstream promoter, IGF-BP3 box B, and fails to induce apoptosis in culture (PMID: 31483066, PMID: 20471942, PMID: 8756654).
R181P missense loss of function - predicted TP53 R181P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R181P is predicted to confer a loss of function to the Tp53 protein, as demonstrated by a loss of Tp53 transactivation activity in cell culture (PMID: 23149933).
R181S missense unknown TP53 R181S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181S has been identified in sequencing studies (PMID: 29348365, PMID: 22932667, PMID: 21232794), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R196* nonsense loss of function - predicted TP53 R196* results in a premature truncation of the Tp53 protein at amino acid 196 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), R196* is predicted to result in a loss of Tp53 protein function.
R196G missense loss of function - predicted TP53 R196G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R196G is predicted to confer a loss of function to the Tp53 protein, as demonstrated by decreased transactivation activity of Tp53 in culture (PMID: 22710932).
R196L missense unknown TP53 R196L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R196L has been identified in the scientific literature (PMID: 25847421, PMID: 27432539), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R196P missense unknown TP53 R196P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R196P has been identified in the scientific literature (PMID: 25765855), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R209fs frameshift loss of function - predicted TP53 R209fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 209 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), R209fs is predicted to result in a loss of Tp53 protein function.
R209Kfs*6 frameshift loss of function - predicted TP53 R209Kfs*6 indicates a shift in the reading frame starting at amino acid 209 and terminating 6 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), R209Kfs*6 is predicted to result in a loss of Tp53 protein function.
R213* nonsense loss of function - predicted TP53 R213* results in a premature truncation of the Tp53 protein at amino acid 213 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), R213* is predicted to result in a loss of Tp53 protein function.
R213fs frameshift loss of function - predicted TP53 R213fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 213 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), R213fs is predicted to lead to a loss of Tp53 protein function.
R213G missense unknown TP53 R213G lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R213G has been identified in sequencing studies (PMID: 28744014, PMID: 26319365, PMID: 31590326), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R213L missense unknown TP53 R213L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). R213L has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R213Q missense loss of function - predicted TP53 R213Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R213Q results in a mild increase in cell proliferation in culture and fails to inhibit tumor growth in animal models (PMID: 8080050), and therefore, is predicted to confer a loss of function to the Tp53 protein.
R248E missense unknown TP53 R248E is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248E has been identified in the scientific literature (PMID: 23958919, PMID: 10319873), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R248G missense loss of function - predicted TP53 R248G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248G retains the ability to transactivate the Tp53 target genes p21 and PCNA, and also gains the ability to activate transcription of ABCB1 (MDR-1) in cell culture (PMID: 11920959), but fails to repress FOXM1 transcriptional activity in cell culture (PMID: 22919068), and therefore, is predicted to result in a loss of Tp53 protein function.
R248L missense loss of function TP53 R248L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248L results in decreased Tp53 transactivation and repression, and resistance to apoptosis in cell culture (PMID: 8336941, PMID: 20570896, PMID: 18566217).
R248P missense loss of function - predicted TP53 R248P is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248P is predicted to confer a loss of function to the Tp53 protein, as demonstrated by a lack of transactivation in cell culture (PMID: 8062826).
R248Q missense loss of function TP53 R248Q is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248Q results in a loss of DNA binding and decreased transactivation of Tp53 targets and interference with wild-type Tp53 transactivation, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 23538418, PMID: 16861262, PMID: 31395785), as well as increased Akt activation, Stat3 dependent migration, and enhanced tumor onset and growth in mouse models (PMID: 30107178).
R248W missense loss of function TP53 R248W is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248W results in decreased transactivation of Tp53 target genes, increased cell proliferation in culture, and increased tumorigenesis in mice, and leads to decreased ATM activation, resulting in increased genetic instability (PMID: 17417627, PMID: 14743206).
R249G missense loss of function TP53 R249G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249G results in decreased activation of Tp53 target genes, as well as increased proliferation and resistance to apoptosis in cell culture (PMID: 23246812).
R249Gfs*96 frameshift loss of function - predicted TP53 R249Gfs*96 indicates a shift in the reading frame starting at amino acid 249 and terminating 96 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), R249Gfs*96 is predicted to lead to a loss of Tp53 protein function.
R249K missense unknown TP53 R249K is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249K has been identified in the scientific literature (PMID: 27101868, PMID: 29445290), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R249M missense loss of function TP53 R249M is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249M results in decreased Tp53 transcriptional activation and repression in cultured cells (PMID: 15037740, PMID: 17999388).
R249S missense loss of function TP53 R249S is a hotspot mutation within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249S results in decreased DNA binding and transactivation activity of Tp53, and confers context-dependent transforming ability in cell culture (PMID: 20212049, PMID: 20538734).
R249T missense unknown TP53 R249T is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R249T is predicted to confer a loss of function on Tp53 in computational models (PMID: 9724739), and has been associated with secondary drug resistance in a patient (Blood 2018 132:2818), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
R249W missense gain of function TP53 R249W is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249W results in increased proliferation and colony formation in cell culture, and confers a gain of function to Tp53 in the ability to repress TIMP-3 (PMID: 23612969, PMID: 16236433).
R267L missense unknown TP53 R267L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R267L has been identified in the scientific literature (PMID: 23954467, PMID: 28222664, PMID: 32294448), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R267Q missense unknown TP53 R267Q lies within the DNA-binding domain of the Tp53 protein (UniProt.org). The functional effect of R267Q on Tp53 is conflicting as it has been demonstrated to result in decreased Tp53 transactivation activity in some cell culture assays (PMID: 10435620), while in other assays demonstrates increased activity (PMID: 25584008), and results in decreased ability to suppress growth in cell culture (PMID: 10435620, PMID: 25584008).
R267W missense loss of function TP53 R267W lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R267W results in decreased Tp53 transcription activity in a reporter assay, reduced DNA binding, and attenuated ability to induce apoptosis in cell culture (PMID: 24076587).
R273* nonsense loss of function - predicted TP53 R273* results in a premature truncation of the Tp53 protein at amino acid 273 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), R273* is predicted to lead to a loss of Tp53 protein function.
R273C missense loss of function TP53 R273C is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R273C results in decreased activation of wild-type Tp53 target genes, as well as aberrant activation of gene expression, and increased cell proliferation and migration in culture (PMID: 23264849, PMID: 23612969, PMID: 16861262).
R273H missense loss of function TP53 R273H is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R273H results in a loss of DNA binding and decreased activation of Tp53 target gene expression, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 31395785), and also confers a gain of function to Tp53, resulting in aberrant transcriptional activation and increased cell migration (PMID: 22114072, PMID: 14743206, PMID: 32002804).
R273L missense loss of function TP53 R273L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273L results in decreased Tp53 transactivation and decreased transcriptional repression of Tp53 targets in cell culture (PMID: 10787423, PMID: 8336941).
R273P missense loss of function TP53 R273P is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273P results in decreased activation of the Tp53 target gene p21, and exerts a dominant-negative effect on wild-type Tp53 protein in cell culture (PMID: 22484423).
R273S missense loss of function TP53 R273S is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273S results in decreased activation of Tp53 target genes, as well as increased proliferation and resistance to apoptosis in cell culture (PMID: 23246812).
R273W missense loss of function - predicted TP53 R273W is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273W is predicted to confer a loss of function to the Tp53 protein, as demonstrated by decreased gene transcription in response to Tgf-beta treatment in cell culture (PMID: 17875924).
R273X missense unknown TP53 R273X indicates a hotspot mutation resulting in an amino acid change at codon 273 of the Tp53 protein, which often results in a loss of Tp53 protein function.
R273Y missense unknown TP53 R273Y is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273Y has been identified in the scientific literature (PMID: 29150975, PMID: 29026176), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R280A missense loss of function TP53 R280A lies within the DNA binding region of the Tp53 protein (UniProt.org). R280A confers a loss of function to the Tp53 protein as demonstrated by loss of Tp53 DNA binding, impaired oligomerization of the pro-apoptotic protein Bak, and resistance to apoptosis (PMID: 7969167, PMID: 18524770).
R280D missense loss of function TP53 R280D lies within the DNA binding region of the Tp53 protein (UniProt.org). R280D confers a loss of function to the Tp53 protein as demonstrated by lack of DNA binding ability and impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 7651437, PMID: 18524770).
R280G missense unknown TP53 R280G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R280G results in dominant-negative activity in a yeast assay (PMID: 15825182), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
R280I missense unknown TP53 R280I lies in a DNA contact site within the DNA-binding domain of the Tp53 protein (PMID: 21056992). R280I has been identified in the scientific literature (PMID: 29700339, PMID: 27167113, PMID: 25695693), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R280K missense gain of function TP53 R280K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R280K results in decreased activation and repression of wild-type Tp53 target genes (PMID: 17070499, PMID: 16322760, PMID: 18472962), as well as a gain-of-function in activation of novel targets, and leads to increased cell migration and invasion, and increased cell survival (PMID: 18472962, PMID: 24763051).
R280M missense loss of function TP53 R280M lies within the DNA binding domain of the Tp53 protein (UniProt.org). R280M results in decreased DNA binding and activation of Tp53 target genes and resistance to apoptosis in cell culture (PMID: 21643018).
R280T missense loss of function TP53 R280T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R280T results in a loss of Tp53 transactivation activity and is transforming in cell culture (PMID: 16616891, PMID: 8464896), and leads to increased cell proliferation, survival, and phosphorylation of Akt in culture, and promotes tumor formation in mouse models (PMID: 32117754).
R282D missense loss of function TP53 R282D lies within the DNA binding region of the Tp53 protein (UniProt.org). R282D confers a loss of function to the Tp53 protein as demonstrated by lack of DNA binding ability and impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 7651437, PMID: 18524770).
R282fs frameshift loss of function - predicted TP53 R282fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 282 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), R282fs is predicted to lead to a loss of Tp53 protein function.
R282G missense unknown TP53 R282G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R282G has been identified in the scientific literature (PMID: 25287991, PMID: 28527674, PMID: 25404506), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R282H missense unknown TP53 R282H is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R282H has been identified in the scientific literature (PMID: 29298430, PMID: 10582680), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
R282Q missense gain of function TP53 R282Q is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R282Q confers a gain of function to Tp53 as demonstrated by activation of PCNA and MDR-1 expression, increased IL-6, and results in increased growth of human cells in culture (PMID: 11920959).
R282W missense loss of function TP53 R282W is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R282W results in decreased activation of Tp53 target genes, leads to resistance to apoptosis and failure of G1arrest in culture (PMID: 31395785), and additionally acquires neomorphic DNA binding sites (PMID: 31395785), inhibits Ampk signaling, leading to invasive growth and altered cell metabolism in culture and promotes tumor development in mouse models (PMID: 24857548).
R283A missense loss of function - predicted TP53 R283A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R283A is predicted to confer a loss of function to the Tp53 protein, as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak by Tp53 in an in vitro assay (PMID: 18524770).
R283Afs*62 frameshift loss of function - predicted TP53 R283Afs*62 indicates a shift in the reading frame starting at amino acid 283 and terminating 62 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), R283Afs*62 is predicted to lead to a loss of Tp53 protein function.
R283C missense loss of function TP53 R283C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R283C leads to a reduction in Tp53 transactivation activity, and the corresponding mouse variant (R277C) demonstrates decreased ability to prevent TgfB-induced epithelial-to-mesenchymal transition in culture (PMID: 22710932, PMID: 23018556).
R283del deletion loss of function - predicted TP53 R283del (also reported as R282del) results in the deletion of an amino acid in the DNA-binding domain of the Tp53 protein at amino acid 283 (PMID: 22713868). R283del is predicted to confer a loss of function to the Tp53 protein as demonstrated by loss of Tp53-mediated transcriptional activation in cell culture (PMID: 14690015).
R283H missense unknown TP53 R283H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R283H interacts with p73 and inhibits wild-type Tp53 transcriptional activity in a reporter assay (PMID: 11238924), retains the ability to transactivate CDKN1A but not BAX, and retains the ability to inhibit cell growth similar to wild-type Tp53 in culture (PMID: 12019170), and therefore, its effect on Tp53 protein function is unknown.
R283P missense unknown TP53 R283P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R283P results in decreased transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
R290G missense gain of function - predicted TP53 R290G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R290G is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
R290H missense no effect TP53 R290H lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R290H demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587).
R306* nonsense loss of function - predicted TP53 R306* results in a premature truncation of the Tp53 protein at amino acid 306 of 393 (UniProt.org). Due to the loss of the tetramerization domain (PMID: 20978130), R306* is predicted to lead to a loss of Tp53 function.
R333fs frameshift loss of function - predicted TP53 R333fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 333 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R333fs has not been characterized however, due to the effects of truncation mutations downstream of R333 (PMID: 9331090, PMID: 16969106), is predicted to lead to a loss of Tp53 protein function.
R333P missense unknown TP53 R333P lies within the HIPK1, CARM1, and HIPK2-interacting region and the oligomerization region of the Tp53 protein (UniProt.org). R333P results in a monomer Tp53 protein and loss of Tp53 transcriptional activity in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
R333Vfs*12 frameshift loss of function - predicted TP53 R333Vfs*12 indicates a shift in the reading frame starting at amino acid 333 and terminating 12 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). R333Vfs*12 has not been characterized however, due to the effects of truncation mutations downstream of R333 (PMID: 9331090, PMID: 16969106), is predicted to lead to a loss of Tp53 protein function.
R335fs frameshift loss of function - predicted TP53 R335fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 335 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R335fs has not been characterized however, due to the effects of truncation mutation downstream of R335 (PMID: 9331090, PMID: 16969106), is predicted to lead to a loss of Tp53 protein function.
R335H missense unknown TP53 R335H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R335H results in increased monomer formation compared to wild-type Tp53 in cell culture (PMID: 19454241), but has not been fully biochemically characterized, and therefore, its effect on Tp53 protein function is unknown.
R337C missense loss of function TP53 R337C lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337C results decreased tetramerization and loss of Tp53 transcriptional activity, and decreased apoptotic response to irradiation in cell culture (PMID: 19454241, PMID: 9150393).
R337H missense loss of function TP53 R337H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337H demonstrates decreased Tp53 tetramerization and transactivation activity in cell culture (PMID: 19454241, PMID: 25584008), decreased transactivation activity and expression of DNA damage markers and increased tumorigenesis in mice harboring the corresponding mouse allele (PMID: 30042151), results in increased Tp53 nuclear accumulation in patient samples (PMID: 26452166), and has a pH-dependent effect on Tp53 stability and activity (PMID: 25584008, PMID: 11753428).
R337L missense loss of function TP53 R337L lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337L results in reduced Tp53 tetramerization and decreased DNA binding and transactivation activity in cell culture (PMID: 19454241, PMID: 9766574).
R337P missense loss of function TP53 R337P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337P results in decreased Tp53 tetramerization and transactivation activity and increased colony formation in cell culture (PMID: 19454241, PMID: 29955864).
R337S missense unknown TP53 R337S lies within the tetramerization domain of the Tp53 protein (UniProt.org). R337S results in a monomer Tp53 protein in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
R342* nonsense loss of function TP53 R342* results in a premature truncation of the Tp53 protein at amino acid 342 of 393 (UniProt.org). R342* confers a loss of function to the Tp53 protein as demonstrated by decreased nuclear localization and reduced transactivation of Tp53 targets in cell culture (PMID: 16969106).
R342fs frameshift loss of function - predicted TP53 R342fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 342 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R342fs has not been biochemically characterized, however, a truncation at R342 results in reduced nuclear localization and decreased transactivation of Tp53 targets (PMID: 16969106), and therefore, is predicted to result in loss of Tp53 protein function.
R342P missense loss of function TP53 R342P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R342P results in decreased Tp53 tetramerization and transactivation activity in cell culture (PMID: 19454241, PMID: 9766574).
R65* nonsense loss of function - predicted TP53 R65* results in a premature truncation of the Tp53 protein at amino acid 65 of 393 (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), R65* is predicted to lead to a loss of Tp53 protein function.
S106N missense unknown TP53 S106N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S106N has been identified in sequencing studies (PMID: 29451897), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S106T missense unknown TP53 S106T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S106T has been identified in sequencing studies (PMID: 24573554), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S116C missense loss of function - predicted TP53 S116C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S116C has not been biochemically characterized, but is predicted to destabilize the Tp53 protein by computational mutagenesis (PMID: 15683227), and therefore, is predicted to result in a loss of Tp53 protein function.
S121A missense gain of function - predicted TP53 S121A lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). S121A is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
S121C missense gain of function - predicted TP53 S121C lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). S121C is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
S121F missense gain of function - predicted TP53 S121F lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). S121F is predicted to confer a gain of function to the Tp53 protein, as demonstrated by increased ability to induce apoptosis in cultured cells (PMID: 15781620).
S127F missense unknown TP53 S127F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S127F results in decreased Tp53 transactivation activity in yeast (PMID: 16000567), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S127Y missense unknown TP53 S127Y lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S127Y has been identified in the scientific literature (PMID: 28351930, PMID: 23967324, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S149fs frameshift loss of function - predicted TP53 S149fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 149 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), S149fs is predicted to lead to a loss of Tp53 protein function.
S183* nonsense loss of function - predicted TP53 S183* results in a premature truncation of the Tp53 protein at amino acid 183 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), S183* is predicted to lead to a loss of Tp53 protein function.
S183L missense unknown TP53 S183L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S183L results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
S185R missense unknown TP53 S185R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S185R has been identified in the scientific literature (PMID: 29979965, PMID: 11454518), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S20fs frameshift loss of function - predicted TP53 S20fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 20 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S20fs is predicted to lead to a loss of Tp53 protein function.
S215fs frameshift loss of function - predicted TP53 S215fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 215 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), S215fs is predicted to lead to a loss of Tp53 protein function.
S215G missense loss of function TP53 S215G lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S215G results in decreased Tp53 transactivation activity and leads to reduced apoptosis relative to wild type Tp53 in cell culture (PMID: 22862161).
S215I missense loss of function - predicted TP53 S215I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S215I is predicted to confer a loss of function to the Tp53 protein, as demonstrated by the inability to transactivate Mdm2 in an in vitro assay (PMID: 17325666).
S215R missense unknown TP53 S215R lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S215R has been identified in the scientific literature (PMID: 31365877, PMID: 34178662), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2021).
S215T missense unknown TP53 S215T lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S215T has been demonstrated to result in increased Tp53 transcriptional activity in a yeast assay (PMID: 11313981), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
S227F missense unknown TP53 S227F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S227F has been identified in the scientific literature (PMID: 16818615, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S227fs frameshift loss of function - predicted TP53 S227fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 227 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), S227fs is predicted to result in a loss of Tp53 protein function.
S227Lfs*20 frameshift loss of function TP53 S227Lfs*20 indicates a shift in the reading frame starting at amino acid 227 and terminating 20 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S227Lfs*20 results in caspase-3 induction similar to wild-type Tp53, but confers a loss of function to Tp53 as indicated by failure to induce apoptosis in cultured cells, minimal transactivation activity in a reporter assay, and altered subcellular localization and decreased Puma and Bax expression in cultured cells (PMID: 31081129).
S227P missense unknown TP53 S227P lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S227P has been identified in the scientific literature (PMID: 26687995, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S240I missense unknown TP53 S240I lies within the DNA-binding domain and CCAR2, HIPK1, ZNF385A, and AXIN1-interacting region of the Tp53 protein (PMID: 15510160, UniProt.org). The functional effect of S240I is conflicting, as it has been reported to reduce Tp53 transactivation activity, but retains growth suppression ability in cell culture (PMID: 10901165).
S240Kfs*25 frameshift loss of function - predicted TP53 S240Kfs*25 indicates a shift in the reading frame starting at amino acid 240 and terminating 25 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S240Kfs*25 induces apoptosis similar to wild-type Tp53 in cultured cells, but demonstrates altered subcellular localization, minimal transactivation activity in a reporter assay, and decreased induction of Puma expression in cultured cells (PMID: 31081129), and therefore, is predicted to result in a loss of Tp53 protein function.
S240R missense loss of function TP53 S240R lies within the DNA-binding domain and HIPK1, ZNF385A and AXIN1-interacting region of the Tp53 protein (UniProt.org). S240R confers a loss of function to Tp53 as demonstrated by decreased Tp53 transactivation activity and decreased ability to induce apoptosis, but retains growth suppression activity in cell culture (PMID: 12509279, PMID: 10229196, PMID: 25881545).
S240T missense unknown TP53 S240T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S240T has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S241C missense unknown TP53 S241C lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S241C results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
S241F missense loss of function TP53 S241F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S241F results in a decreased in Tp53 transcriptional activity (PMID: 19225112, PMID: 26585234), and interferes with formation of the Tp53/Bard1/CstF complex in cell culture (PMID: 21383700).
S241Y missense loss of function TP53 S241Y lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S241Y results in a loss of Tp53 transactivation activity and decreased ability to suppress colony formation in cell culture (PMID: 25584008).
S269R missense unknown TP53 S269R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S269R has been identified in the scientific literature (PMID: 29979965, PMID: 28338653), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S303G missense unknown TP53 S303G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S303G has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S303R missense unknown TP53 S303R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S303R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S33A missense unknown TP53 S33A lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). S33A demonstrates Slk-stimulated transcriptional activity similar to wild-type Tp53 in culture in one study (PMID: 19640899), but decreased transcriptional response to CDDP in another study (PMID: 10811125) and loss of FBW7a-binding and ubiquitination, preventing degradation in cell lines (PMID: 31346036), and therefore, its effect on Tp53 protein function is unknown.
S362C missense unknown TP53 S362C lies within the CARM1, HIPK1, and USP7-interacting regions of the Tp53 protein (UniProt.org). S362C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
S366A missense no effect - predicted TP53 S366A lies within the HIPK1 and CARM1-interacting regions of the Tp53 protein (UniProt.org). S366A results in colony growth (PMID: 33257846), p21 binding, regulation of target promoters, and STAT4 activation similar to wild-type Tp53 in culture (PMID: 24076587), and therefore, is predicted to have no effect on Tp53 protein function.
S366Y missense unknown TP53 S366Y lies within HIPK1 and CARM1-interacting regions of the Tp53 protein (UniProt.org). S366Y has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S378P missense no effect - predicted TP53 S378P lies within the region of the Tp53 protein involved in repression of DNA binding and interaction with CARM1 (UniProt.org). S378P results in colony growth (PMID: 33257846), p21 binding, regulation of target promoters, and STAT4 mRNA expression similar to wild-type Tp53 in culture (PMID: 24076587), and therefore, is predicted to have no effect on Tp53 protein function.
S392fs frameshift unknown TP53 S392fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 392 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S392fs has been identified in sequencing studies (PMID: 29604399), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S46fs frameshift loss of function - predicted TP53 S46fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 46 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), S46fs is predicted to lead to a loss of Tp53 protein function.
S90fs frameshift loss of function - predicted TP53 S90fs results in a change in the amino acid sequence of the Tp53 protein beginning at 90 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), S90fs is predicted to lead to a loss of Tp53 protein function.
S94* nonsense loss of function - predicted TP53 S94* results in a premature truncation of the Tp53 protein at amino acid 94 of 393 (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), S94* is predicted to lead to a loss of Tp53 protein function.
S96A missense unknown TP53 S96A lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S96A is phosphorylated to similar levels as wild-type Tp53 by Nek2 in culture (PMID: 30266789), but has not been fully biochemically characterized, and therefore, its effect on Tp53 protein function is unknown.
S96F missense unknown TP53 S96F lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S96F has been identified in the scientific literature (PMID: 15308588, PMID: 19336573, PMID: 27574101), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S96P missense unknown TP53 S96P lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S96P demonstrates enhanced Tp53 transactivation activity in a yeast assay (PMID: 11313981), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
S99A missense unknown TP53 S99A lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99A has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S99F missense unknown TP53 S99F lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99F does not interfere with Tp73 transactivation in a yeast assay (PMID: 12917626), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
S99P missense unknown TP53 S99P lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99P has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S99Y missense unknown TP53 S99Y lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99Y has been identified in the scientific literature (PMID: 11896595), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
S9N missense unknown TP53 S9N lies within the transactivation domain of the Tp53 protein (PMID: 21760703). S9N has been identified in the scientific literature (PMID: 12826609, PMID: 28187452), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T102A missense loss of function - predicted TP53 T102A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T102A results in disruption of the interaction with the apoptotic modulating proteins Puma and Noxa in an in vitro assay (PMID: 22446329), and therefore, is predicted to result in a loss of Tp53 protein function.
T118fs frameshift loss of function - predicted TP53 T118fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 118 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (PMID: 21561095), T118fs is predicted to lead to a loss of Tp53 protein function.
T118Qfs*5 frameshift loss of function - predicted TP53 T118Qfs*5 indicates a shift in the reading frame starting at amino acid 118 and terminating 5 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (PMID: 21561095), T118Qfs*5 is predicted to lead to a loss of Tp53 protein function.
T125A missense loss of function - predicted TP53 T125A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T125A results in reduced Tp53 DNA-binding ability in an in vitro assay (PMID: 16687402), and a gain of Igf2 activation in cell culture (PMID: 10949925), and therefore, is predicted to result in a loss of Tp53 protein function.
T140I missense unknown TP53 T140I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T140I TP53 has been identified in the scientific literature (PMID: 27101868, PMID: 22678923, PMID: 17962810), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T140S missense unknown TP53 T140S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T140S has been identified in the scientific literature (PMID: 32234759), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T140_C141del deletion unknown TP53 T140_C141del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 140 to 141 (UniProt.org). T140_C141del has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T155P missense unknown TP53 T155P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). T155P results in decreased transcriptional activity in yeast (PMID: 31365877), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
T170M missense unknown TP53 T170M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T170M has been identified in the scientific literature (PMID: 21925707, PMID: 25480502, PMID: 30107178), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T170P missense unknown TP53 T170P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T170P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
T211A missense gain of function - predicted TP53 T211A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T211A results in a loss of repression by AurkB as demonstrated by increased transcriptional activity compared to wild-type Tp53 in a reporter assay (PMID: 22611192), and therefore, is predicted to lead to a gain of Tp53 protein function.
T211Ffs*4 frameshift loss of function - predicted TP53 T211Ffs*4 indicates a shift in the reading frame starting at amino acid 211 and terminating 4 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), T211Ffs*4 is predicted to lead to a loss of Tp53 protein function.
T211I missense loss of function - predicted TP53 T211I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T211I results in reduced transactivation activity compared to wild-type Tp53 in a reporter assay (PMID: 22710932), and therefore, is predicted to result in a loss of Tp53 protein function.
T211S missense unknown TP53 T211S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T211S results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
T230P missense unknown TP53 T230P lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T230P has been identified in the scientific literature (PMID: 29979965, PMID: 28477877, PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T253I missense unknown TP53 T253I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T253I results in temperature-sensitive conformational change in Tp53 protein (PMID: 14559903), and increased protein stability in combination with Y236F in an in vitro assay (PMID: 16461916), but has not been fully characterized, and therefore, its effect on Tp53 protein function is unknown.
T256I missense unknown TP53 T256I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T256I has been identified in the scientific literature (PMID: 19558684, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T256K missense unknown TP53 T256K lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T256K has been identified in the scientific literature (PMID: 22801474, PMID: 21380628), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T284A missense no effect TP53 T284A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T284A does not impair oligomerization of the pro-apoptotic protein Bak (PMID: 18524770), and induces the expression of its target genes p21 and Bak similar to wild-type Tp53 in a cell culture assay (PMID: 20959462).
T312S missense no effect - predicted TP53 T312S lies within the CARM1 and CCAR2-interacting regions of the Tp53 protein (UniProt.org). T312S results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
T329A missense no effect TP53 T329A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). T329A demonstrates activity similar to wild-type TP53 including transactivation activity, suppression of the MDR-1 promoter, and cell growth inhibition (PMID: 10329187).
T329fs frameshift loss of function - predicted TP53 T329fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 329 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T329fs has not been characterized however, due to the effects of truncation mutation downstream of T329 (PMID: 9331090, PMID: 16969106), is predicted to lead to a loss of Tp53 protein function.
T377P missense unknown TP53 T377P lies within the region of the Tp53 protein involved in repression of DNA binding and the CARM1-interacting region (UniProt.org). T377P has been identified in sequencing studies (PMID: 27023146), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
T377S missense unknown TP53 T377S lies within the region of the Tp53 protein involved in repression of DNA binding and the CARM1-interacting region (UniProt.org). T377S has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
TP53 - KPNA3 fusion unknown TP53-KPNA3 results from the fusion of TP53 and KPNA3 (PMID: 27626065). TP53-KPNA3 has been identified in osteosarcoma (PMID: 27626065), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Apr 2021).
TP53 - NTRK1 fusion unknown TP53-NTRK1 results from the fusion of TP53 and NTRK1 (PMID: 24445538). TP53-NTRK1 has been identified in spitzoid tumors (PMID: 24445538), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Aug 2021).
V122E missense unknown TP53 V122E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V122E results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
V122fs frameshift loss of function - predicted TP53 V122fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 122 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), V122fs is predicted to lead to a loss of Tp53 protein function.
V122M missense unknown TP53 V122M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V122M results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
V143A missense loss of function TP53 V143A lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V143A results in decreased DNA binding and Tp53 transactivation activity, and leads to increased colony formation in cell culture (PMID: 16827139, PMID: 10973264, PMID: 15077194).
V147A missense unknown TP53 V147A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V147A has been identified in sequencing studies (PMID: 30048458, PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V147L missense unknown TP53 V147L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V147L has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V157D missense loss of function - predicted TP53 V157D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V157D results in loss of transactivation of the p21 promoter in the presence of KRAS G12D, and leads to increased cell proliferation and colony formation in culture and decreased apoptosis upon UV irradiation in a Drosophila model, but both with greater effects when co-expressed with PMS2 R20Q (PMID: 23981578), and therefore, is predicted to lead to a loss of Tp53 protein function.
V157F missense loss of function TP53 V157F lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V157F results in decreased DNA binding and activation of Tp53 targets, and also confers a gain of function to Tp53, resulting in aberrant gene regulation, including suppression of uPA, in cell culture (PMID: 15077194, PMID: 16778209, PMID: 22710932, PMID: 31067569).
V157fs frameshift loss of function - predicted TP53 V157fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 157 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V157fs results in loss of Tp53 protein expression, and increased proliferation, migration, and invasion in cultured cells (PMID: 33987408), and therefore, is predicted to lead to a loss of Tp53 protein function.
V157L missense unknown TP53 V157L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V157L has been identified in the scientific literature (PMID: 31192134), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
V157P missense unknown TP53 V157P lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V157P demonstrates binding to ZBP-89 at a similar level to wild-type Tp53 in culture (PMID: 12759240), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
V172F missense loss of function - predicted TP53 V172F lies within the DNA binding region of the Tp53 protein (UniProt.org). V172F is predicted to result in a loss of Tp53 function, as it demonstrates enhanced interaction with Mdm4 and confers context-dependent alterations in Tp53 stability (PMID: 26876197).
V173A missense loss of function - predicted TP53 V173A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173A demonstrates reduced Tp53 transactivation activity in cell culture (PMID: 10617466), and therefore, is predicted to result in a loss of Tp53 protein function.
V173dup duplication unknown TP53 V173dup indicates the insertion of the duplicate amino acid, valine (V)-173, in the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173dup has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
V173G missense unknown TP53 V173G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173G interferes with Tp53 transactivation in a yeast assay (PMID: 12917626), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
V173L missense loss of function TP53 V173L lies within the DNA-binding domain of the Tp53 protein (PMID: 23246812). V173L results in aberrant Tp53 localization and decreased Tp53 target transactivation, and leads to increased cell growth and diminished Tp53 pro-apoptotic function in culture (PMID: 23246812).
V173M missense loss of function - predicted TP53 V173M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173M is predicted to confer a loss of function to the Tp53 protein, as demonstrated by reduced Tp53 transactivation activity in cell culture (PMID: 15037740).
V197L missense loss of function - predicted TP53 V197L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V197L results in a temperature-dependent decrease in Tp53 transcriptional activity at 37 degrees, and is associated with decreased induction of apoptosis in cultured cells (PMID: 11668476), and therefore is predicted to result in a loss of Tp53 protein function.
V197M missense unknown TP53 V197M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V197M has been identified in the scientific literature (PMID: 24038938, PMID: 31889631), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
V203E missense unknown TP53 V203E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203E has been identified in the scientific literature (PMID: 27022024, PMID: 30309854, PMID: 24501221), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V203L missense unknown TP53 V203L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203L has been identified in the scientific literature (PMID: 25331842, PMID: 30416685), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V203M missense unknown TP53 V203M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203M has been identified in sequencing studies (PMID: 21460101, PMID: 23200980, PMID: 31784493), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V216G missense unknown TP53 V216G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V216G has been identified in sequencing studies (PMID: 17982662), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V216M missense loss of function - predicted TP53 V216M lies within the DNA-binding domain of the Tp53 protein (UniProt.org). V216M results in decreased Tp53 transactivation activity in cultured cells (PMID: 20505364), and decreased transcriptional activity in patient cells (PMID: 28369373), and therefore, is predicted to result in a loss of Tp53 protein function.
V217M missense no effect TP53 V217M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V217M demonstrates DNA-binding activity, induction of apoptosis, and activation of STAT4 mRNA expression to similar levels of wild-type Tp53 in culture (PMID: 24076587).
V218del deletion unknown TP53 V218del results in the deletion of one amino acid within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V218del has been identified in the scientific literature (PMID: 31892709), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Mar 2021).
V272A missense unknown TP53 V272A lies within the DNA-binding domain of the Tp53 protein (UniProt.org). V272A results in increased expression of Tp53 in an in vitro assay (PMID: 28363997), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
V272L missense unknown TP53 V272L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V272L demonstrates transcription activity similar to wild-type Tp53 in yeast (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
V272M missense loss of function TP53 V272M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V272M results in loss of DNA-binding (PMID: 11870884) and transactivation ability in cell culture (PMID: 11870884, PMID: 22710932).
V274A missense unknown TP53 V274A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V274A has been identified in the scientific literature (PMID: 26619011), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2021).
V274D missense unknown TP53 V274D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V274D has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
V274F missense loss of function TP53 V274F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V274F results in decreased Tp53 transactivation activity and reduced induction of apoptosis, but retains some context-dependent growth suppression in cell culture (PMID: 12782597).
V274fs frameshift loss of function - predicted TP53 V274fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 274 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the DNA-binding domain and loss of the tetramerization domain (PMID: 22713868), V274fs is predicted to lead to a loss of Tp53 protein function.
V31I missense no effect - predicted TP53 V31I lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). V31I results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
V73M missense no effect - predicted TP53 V73M lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). V73M results in colony growth and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
W146* nonsense loss of function - predicted TP53 W146* results in a premature truncation of the Tp53 protein at amino acid 146 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), W146* is predicted to lead to a loss of Tp53 protein function.
W53* nonsense loss of function - predicted TP53 W53* results in a premature truncation of the Tp53 protein at amino acid 53 of 393 (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), W53* is predicted to lead to a loss of Tp53 protein function.
W91* nonsense loss of function - predicted TP53 W91* results in a premature truncation of the Tp53 protein at amino acid 91 of 393 (UniProt.org). Due to the loss of the DNA-binding domain as well as several other functional domains (UniProt.org), W91* is predicted to lead to a loss of Tp53 protein function.
W91fs frameshift loss of function - predicted TP53 W91fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 91 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-binding domain and the oligomerization domain (PMID: 21561095), W91fs is predicted to lead to a loss of Tp53 protein function.
W91Gfs*32 frameshift loss of function - predicted TP53 W91Gfs*32 indicates a shift in the reading frame starting at amino acid 91 and terminating 32 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). W91Gfs*32 maintains induction of apoptosis, but results in altered subcellular localization and a loss of transcriptional transactivation activity in a reporter assay (PMID: 31081129), and therefore, is predicted to result in a loss of Tp53 protein function.
wild-type none no effect Wild-type TP53 indicates that no mutation has been detected within the TP53 gene.
Y103* nonsense loss of function - predicted TP53 Y103* results in a premature truncation of the Tp53 protein at amino acid 103 of 393 (UniProt.org). Due to the loss of the majority of the DNA-binding domain as well as several other functional domains (UniProt.org), Y103* is predicted to lead to a loss of Tp53 protein function.
Y103S missense unknown TP53 Y103S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Y103S has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
Y107H missense no effect - predicted TP53 Y107H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y107H results in colony growth, induction of apoptosis, and transcriptional activity similar to wild-type Tp53 in cultured cells (PMID: 33257846), and therefore, is predicted to have no effect on Tp53 protein function.
Y107N missense unknown TP53 Y107N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Y107N has been identified in sequencing studies (PMID: 27612322), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
Y126C missense loss of function - predicted TP53 Y126C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126C results in decreased Tp53 transactivation activity in cultured cells (PMID: 20505364), and therefore, is predicted to lead to a loss of Tp53 protein function.
Y126S missense unknown TP53 Y126S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126S demonstrates a loss of transcriptional activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2021).
Y163* nonsense loss of function - predicted TP53 Y163* results in a premature truncation of the Tp53 protein at amino acid 163 of 393 (UniProt.org). Due to the disruption of the DNA-binding domain and the loss of the oligomerization domain (UniProt.org), Y163* is predicted to lead to a loss of Tp53 protein function.
Y163C missense loss of function TP53 Y163C lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). Y163C results in decreased transactivation of Tp53 target genes, increased cellular growth rate, and failure to induce apoptosis in cell culture (PMID: 23246812).
Y163H missense unknown TP53 Y163H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y163H has been identified in the scientific literature (PMID: 27179933, PMID: 17764544, PMID: 28245875), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2021).
Y163N missense loss of function - predicted TP53 Y163N lies within the DNA-binding domain of the Tp53 protein (UniProt.org). Y163N results in a loss of cell growth arrest, decreased induction of apoptosis, and transformation in cell culture (PMID: 10229196), and therefore, is predicted to lead to a loss of Tp53 protein function.
Y205* nonsense loss of function - predicted TP53 Y205* results in a premature truncation of the Tp53 protein at amino acid 205 of 393 (UniProt.org). Due to disruption of the DNA-binding domain and loss of the oligomerization domain (UniProt.org), Y205* is predicted to result in a loss of Tp53 protein function.
Y205C missense loss of function TP53 Y205C lies within the DNA binding domain of the Tp53 protein (UniProt.org). Y205C demonstrates decreased Tp53 transactivation activity in cultured cells (PMID: 15037740, PMID: 22710932).
Y220C missense loss of function TP53 Y220C is a hotspot mutation that lies within the DNA-binding domain (PMID: 17401432). Y220C results in decreased DNA binding, reduced Tp53 transcriptional activity, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 16861262, PMID: 23630318, PMID: 31395785).
Y220S missense unknown TP53 Y220S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220S is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31128451), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2021).
Y234C missense loss of function TP53 Y234C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234C results in decreased Tp53 transactivation and interferes with wild-type Tp53 function in cell culture, and correlates with protein aggregates in human tumor samples (PMID: 21056685, PMID: 16861262).
Y234H missense loss of function TP53 Y234H lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). Y234H demonstrates a lack of Tp53 transactivation activity in cell culture (PMID: 10871862, PMID: 27533082).
Y234N missense unknown TP53 Y234N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234N results in decreased induction of PUMA and p21 expression, and induction of BAX expression comparable to wild-type protein in a patient sample (PMID: 19850740), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Y234S missense unknown TP53 Y234S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234S has been identified in sequencing studies (PMID: 24667986, PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2021).
Y236C missense loss of function TP53 Y236C lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Y236C demonstrates decreased Tp53 transactivation activity in cell culture (PMID: 16827139, PMID: 25634208).
Y236F missense unknown TP53 Y236F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Y236F results in reduced DNA-binding affinity compared to wild-type Tp53 when combined with M133L, V203A, and N268D in an in vitro assay (PMID: 25584637), but has not been individually characterized and therefore, its effect on Tp53 protein function is unknown.
Y327L missense unknown TP53 Y327L (also referred to as Y326L) lies within the tetramerization domain of the Tp53 protein (PMID: 15510160). Y327L confers similar sensitivity to mutant Tp53-targeted therapeutics compared to cells with characterized Tp53 mutations in culture (PMID: 26748848), however, has not been biochemically characterized and therefore, its effect on Tp53 function is unknown.