Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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: |
|
||||||||||
|
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, Dec 2023). | |
A119Qfs*5 | frameshift | loss of function - predicted | TP53 A119Qfs*5 indicates a shift in the reading frame starting at amino acid 119 and terminating five residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). A119Qfs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of A119 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
A129Tfs*12 | frameshift | loss of function - predicted | TP53 A129Tfs*12 indicates a shift in the reading frame starting at amino acid 129 and terminating 12 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). A129Tfs*12 has not been biochemically characterized however, due to the effects of truncation mutations downstream of A129 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
A138P | missense | loss of function | TP53 A138P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A138P results in growth and cell cycle distribution similar to wild-type protein at nonstressed conditions (PMID: 15548685), but rescues TGF-beta-induced apoptosis in cell culture (PMID: 15548685; PMID: 22621932), and demonstrates reduced ability to regulate transcription of Tp53 target genes in culture (PMID: 15548685), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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). | |
A138V | missense | loss of function | TP53 A138V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A138V fails to both inhibit the interaction between Myb and Hsf3 in cultured cells and transactivate Myb in a reporter assay (PMID: 10747903), results in decreased binding to Tlr3, reduced transactivation of Tlr3 and p21 in a reporter assay, and decreased cytokine induction and failure to increase apoptosis in response to a double-strand RNA synthetic agonist in culture (PMID: 27533082), and results in deceased transactivation of Cep55 in a reporter assay (PMID: 22184120). | |
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). A159fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A159 (PMID: 31081129, PMID: 34045312), 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 been identified in sequencing studies (PMID: 37345120), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2023). | |
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, PMID: 37345120), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2023). | |
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, Dec 2023). | |
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), and results in interaction with Tbk1 and decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), 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, Dec 2023). | |
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, Jan 2024). | |
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, PMID: 37697151), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, Jul 2024). | |
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). A307fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A307 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein 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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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. | |
A88fs | frameshift | loss of function - predicted | TP53 A88fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 88 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). A88fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A88 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of 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. | |
C124* | nonsense | loss of function - predicted | TP53 C124* results in a premature truncation of the Tp53 protein at amino acid 124 of 393 (UniProt.org). C124* has not been biochemically characterized however, due to the effects of truncation mutations downstream of C124 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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). C124fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C124 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
C124S | missense | gain of function - predicted | TP53 C124S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C124S results in induction of p21 similar to wild-type Tp53 in culture (PMID: 34679713) but 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). C135Afs*35 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C135 (PMID: 31081129, PMID: 34045312), 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). C135fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C135 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
C135S | missense | loss of function | TP53 C135S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). C135S confers a loss of function to the Tp53 protein as demonstrated by decreased DNA-binding (PMID: 12034820) and decreased induction of p21 expression in culture (PMID: 34679713). | |
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: 37456921, PMID: 37327320, PMID: 33567287), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, inability to induce downstream miRs, loss of transactivation activity in cell culture (PMID: 19626115, PMID: 8336941), increased colony formation compared to wild-type in the presence of an MDM2 antagonist in cell culture, and tumor growth in mouse models (PMID: 35165384). | |
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). C141Afs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C141 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
C141S | missense | loss of function - predicted | 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 but increased oxidative dissociation compared to wild-type Tp53 in an in vitro assay (PMID: 25584637), and leads to decreased induction of p21 in cultured cells (PMID: 34679713), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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). C176* has not been biochemically characterized however, due to the effects of truncation mutations downstream of C176 (PMID: 31081129, PMID: 34045312), 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). C176Afs*71 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C176 (PMID: 31081129, PMID: 34045312), 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 results in similar mitotic rate and apoptotic activity as wild-type Tp53 but decreased tumor initiation and proliferation in a zebrafish model also expressing KRAS G12D (PMID: 37266578), results in the inability to induce CDKN1A (p21) transcription in cell culture (PMID: 22090360), and leads to increased proliferation, migration, invasion, and Tp53 protein stability in culture (PMID: 37030635), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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, PMID: 37379264), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2024). | |
C176S | missense | loss of function - predicted | TP53 C176S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176S is associated with increased protein stability (PMID: 34178628), but results in loss of p21 induction and altered disulfide-dependent complexing in cultured cells (PMID: 34679713), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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). | |
C182S | missense | no effect - predicted | TP53 C182S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C182S results in disulfide-dependent binding and induction of p21 expression similar to wild-type Tp53 in cultured cells (PMID: 34679713), and therefore, is predicted to have no effect on Tp53 protein function. | |
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. | |
C238R | missense | unknown | TP53 C238R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238R does not confer sensitivity to Tp53 activator in patient cells in culture (PMID: 16081689), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, PMID: 37681218), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
C238Y | missense | unknown | 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), however, results in aberrant transactivation of Ctnnb1 in culture (PMID: 37537199), and therefore, its effect on Tp53 protein function is unknown. | |
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, Jul 2024). | |
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). C242Afs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C242 (PMID: 31081129, PMID: 34045312), 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). C242fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C242 (PMID: 31081129, PMID: 34045312), 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, Jun 2024). | |
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: 35155188, PMID: 37404765, PMID: 27095739), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, decreased affinity for the Gadd45 promoter in an in vitro assay (PMID: 25584637), and decreased induction of p21 in culture (PMID: 34679713). | |
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 (PMID: 25584637) and induction of p21 expression similar to wild-type Tp53 in culture (PMID: 34679713), 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 lead to 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 as wild-type protein, and retains the ability to induce apoptosis, but 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). | |
D21fs | frameshift | loss of function - predicted | TP53 D21fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 21 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). D21fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of D21 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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). D228fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of D228 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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, PMID: 37593116), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, Jan 2024). | |
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: 30139768, PMID: 35724546, PMID: 38219954), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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 Bak 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 lead to a loss of Tp53 protein function. | |
D281G | missense | gain of function | 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). | |
D281N | missense | unknown | TP53 D281N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281N is associated with decreased induction of PUMA, BAX, and p21 expression in a patient sample (PMID: 19850740), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
D281Y | missense | unknown | TP53 D281Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281Y has been identified in the scientific literature (PMID: 36734633), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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. | |
D324Afs*32 | frameshift | loss of function - predicted | TP53 D324Afs*32 indicates a shift in the reading frame starting at amino acid 324 and terminating 32 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). D324Afs*32 has not been biochemically characterized however, due to the effects of truncation mutations downstream of D324 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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 transcriptional 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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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). E180* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E180 (PMID: 31081129, PMID: 34045312), 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). E198* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E198 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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 predicted to stabilize the S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
E198_G199del | deletion | loss of function | TP53 E198_G199del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 198 to 199 (PMID: 22713868). E198_G199del results in increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). | |
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). E204fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E204 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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, Jan 2024). | |
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). D224* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E224 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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 the scientific literature (PMID: 33230179, PMID: 38218680) but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). E224fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E224 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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). E258* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E258 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
E258A | missense | unknown | TP53 E258A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258A has been identified in the scientific literature (PMID: 17786186, PMID: 32164171, PMID: 35856441), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2024). | |
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), loss of transactivation activity in yeast (PMID: 12826609), and loss of type 2 Deiodinase (D2) inhibition in culture (PMID: 36871014), 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). | |
E271* | nonsense | loss of function - predicted | TP53 E271* results in a premature truncation of the Tp53 protein at amino acid 271 of 393 (UniProt.org). E271* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E271 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
E271K | missense | loss of function - predicted | TP53 E271K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E271K results in increased colony formation compared to wild-type Tp53 in the presence of an MDM2 antagonist in cell culture and leads to tumor growth in mouse models (PMID: 35165384), and therefore, is predicted to lead to 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). E285* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E285 (PMID: 31081129, PMID: 34045312), 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) and increased Nek2 expression in cell culture (PMID: 35088582). | |
E285Q | missense | unknown | TP53 E285Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E285Q has been identified in the scientific literature (PMID: 12010886, PMID: 25473901, PMID: 26231518), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). | |
E286D | missense | unknown | TP53 E286D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286D has been identified in the scientific literature (PMID: 32886187, PMID: 33178750), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2023). | |
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 (PMID: 20505364) and loss of type 2 Deiodinase (D2) inhibition in culture (PMID: 36871014), and therefore, is predicted to lead to 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). E294* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E294 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
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). E298* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E298 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
E326* | nonsense | loss of function - predicted | TP53 E326* results in a premature truncation of the Tp53 protein at amino acid 326 of 393 (UniProt.org). E326* has not been biochemically characterized however, due to the effects of truncation mutations downstream of E326 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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 biochemically characterized however, due to the effects of truncation mutations downstream of E339 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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 | loss of function - predicted | 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 not been biochemically characterized however, due to the effects of truncation mutations downstream of E343 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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, Jan 2024). | |
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, PMID: 36741442), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, Jan 2024). | |
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: 31081129, PMID: 34045312), is predicted to lead to 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, Jan 2024). | |
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). F109Sfs*14 has not been biochemically characterized however, due to the effects of truncation mutations downstream of F109 (PMID: 31081129, PMID: 34045312), 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 (PMID: 22713868). F109V has been identified in the scientific literature (PMID: 29979965, PMID: 36814285, PMID: 30709875), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, Jan 2024). | |
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). F134fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of F134 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
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). F212fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of F212 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
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). | |
F270C | missense | unknown | TP53 F270C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F270C results in a loss of transactivation activity in yeast assays (PMID: 16861262), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. | |
F270I | missense | unknown | TP53 F270I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F270I results in transactivation activity similar to wild-type Tp53 upon rescue by arsenic trioxide (PMID: 37018419), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Jan 2024). | |
F328S | missense | unknown | TP53 F328S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F328S results in decreased Tp53 transcriptional activity in yeast assays, and is predicted to decrease Tp53 stability in computational models (PMID: 16007150, PMID: 20978130) but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. | |
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 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 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 lead to 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 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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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, Jan 2024). | |
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 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, Jan 2024). | |
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, Jan 2024). | |
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). G154fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G154 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
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 transactivation activity in culture (PMID: 8336941), and therefore, is predicted to lead to 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. | |
G199E | missense | loss of function - predicted | TP53 G199E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G199E results in increased colony formation compared to wild-type Tp53 in the presence of an MDM2 antagonist and leads to tumor growth in mouse models (PMID: 35165384), 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). G226Afs*21 has not been biochemically characterized however, due to the effects of truncation mutations downstream of G226 (PMID: 31081129, PMID: 34045312), 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: 22713868). 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, Jan 2024). | |
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). G244fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G244 (PMID: 31081129, PMID: 34045312), 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, Jan 2024). | |
G245fs | frameshift | loss of function - predicted | TP53 G245fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 245 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G245fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G245 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
G245R | missense | unknown | TP53 G245R is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G245R has been identified in the scientific literature (PMID: 17041903, PMID: 31073076, PMID: 32380900), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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 demonstrates increased proliferation, migration, and invasion through interaction with Hnrnpa2b1 and Hnrnpa1, and increased protein stability in culture (PMID: 37030635), 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, Jan 2024). | |
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 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, Jan 2024). | |
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). G266* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q266 (PMID: 31081129, PMID: 34045312), 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 | loss of function - predicted | TP53 G266V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G266V results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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). G279fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G279 (PMID: 31081129, PMID: 34045312), 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). G279Pfs*69 has not been biochemically characterized however, due to the effects of truncation mutations downstream of G279 (PMID: 31081129, PMID: 34045312), 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 characterized in human cells and therefore, its effect on Tp53 function is unknown (PubMed, Jan 2024). | |
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, Jan 2024). | |
G302Afs*42 | frameshift | loss of function - predicted | TP53 G302Afs*42 indicates a shift in the reading frame starting at amino acid 302 and terminating 42 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). G302Afs*42 has not been biochemically characterized however, due to the effects of truncation mutations downstream of G302 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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 RRAD (PMID: 36749725), PADI4 (PMID: 37140445), PLTP (PMID: 36309086), PCLO, 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 characterized in human cells and therefore, its effect on Tp53 protein 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 lead to a gain of Tp53 protein function. | |
H168D | missense | unknown | TP53 H168D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Jan 2024). | |
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). | |
H168P | missense | loss of function | TP53 H168P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H168P results in subcellular localization similar to wild-type in Tp53-null cells, but leads to increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). | |
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 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, Jan 2024). | |
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, Jan 2024). | |
H178Tfs*69 | frameshift | loss of function - predicted | TP53 H178Tfs*69 indicates a shift in the reading frame starting at amino acid 178 and terminating 69 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). H178Tfs*69 has not been biochemically characterized however, due to the effects of truncation mutations downstream of H178 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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, Feb 2024). | |
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 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, Feb 2024). | |
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), induces cancer gene signature through activation of Ras signaling (PMID: 22427690), and increases proliferation, migration, invasion, and protein stability in culture (PMID: 37030635). | |
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, increased Ccna1 and Cdk4 expression and cell proliferation in culture (PMID: 17530187, PMID: 12509279, PMID: 26497680), and increased proliferation, migration, invasion, and protein stability in culture and increases binding to Eif4a1 and Ruvbl2 (PMID: 37030635). | |
H193D | missense | unknown | TP53 H193D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193D results in decreased transcriptional activity in patient-derived cells in culture (PMID: 28369373), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, PMID: 33562071), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
H193R | missense | unknown | TP53 H193R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193R 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), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. | |
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). H214Qfs*7 has not been biochemically characterized however, due to the effects of truncation mutations downstream of H214 (PMID: 31081129, PMID: 34045312), 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 proliferation, migration, invasion, and protein stability in culture (PMID: 37030635) and increased IL-6 expression and colony formation compared to wild-type Tp53 in cell culture (PMID: 11920959), and therefore, is predicted to lead to 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, Feb 2024). | |
H233_Y234del | deletion | loss of function | TP53 H233_Y234del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 233 to 234 (PMID: 22713868). H233_Y234del results in increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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), and leads to increased Tp53 protein stability, but upregulation of miR-18a, cell proliferation, and decrease in ER-alpha expression similar to wild-type Tp53 in a Tp53-null cell line in culture (PMID: 24975878), 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). I195* has not been biochemically characterized however, due to the effects of truncation mutations downstream of I195 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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: 32561076), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
I195N | missense | unknown | TP53 I195N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195N has been identified in the scientific literature (PMID: 24221193, PMID: 34050359), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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. | |
I195T | missense | loss of function | 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), reduced DNA binding ability relative to wild-type Tp53 in an in vitro assay (PMID: 11782540), increased cytoplasmic localization in Tp53-null cells, increased cellular growth rate, decreased transactivation of Tp53 target genes, and reduced apoptotic function in cell culture (PMID: 23246812). | |
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, Feb 2024). | |
I251N | missense | unknown | TP53 I251N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I251N has been identified in the scientific literature (PMID: 27034009, PMID: 38158377), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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 in culture (PMID: 20505364), and is associated with Tp53 over expression in patient samples (PMID: 26564006), and therefore, is predicted to lead to 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). | |
I255F | missense | loss of function - predicted | TP53 I255F lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I255F retains interaction with PPTG1-binding factor in culture (PMID: 25408419) but results in reduced transactivation activity compared to wild-type Tp53 in a reporter assay (PMID: 22710932), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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, Feb 2024). | |
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. | |
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. | |
I332Pfs*14 | frameshift | loss of function | TP53 I332Pfs*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). I332Pfs*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). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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). K120* has not been biochemically characterized however, due to the effects of truncation mutations downstream of K120 (PMID: 31081129, PMID: 34045312), 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 in culture (PMID: 24975878), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
K132M | missense | unknown | TP53 K132M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132M has been identified in the scientific literature (PMID: 20634494, PMID: 33546249), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, but fails to enhance CDKN1A or ATF3 expression compared to wild-type Tp53 in cultured cells (PMID: 31637714), and therefore, is predicted to lead to 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. | |
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, Feb 2024). | |
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). K139fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of K139 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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. | |
K164* | nonsense | loss of function - predicted | TP53 K164* results in a premature truncation of the Tp53 protein at amino acid 164 of 393 (UniProt.org). K164* has not been biochemically characterized however, due to the effects of truncation mutations downstream of K164 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
K164E | missense | loss of function | TP53 K164E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164E confers a loss of function to the Tp53 protein as demonstrated by decreased transactivation of Tp53 target genes, decreased growth suppression, and loss of DNA binding in culture (PMID: 38050059). | |
K164M | missense | unknown | 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 patient samples (PMID: 8797864), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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). K24Nfs*20 has not been biochemically characterized however, due to the effects of truncation mutations downstream of K24 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
K292T | missense | gain of function - predicted | TP53 K292T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K292T 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). | |
K305* | nonsense | loss of function - predicted | TP53 K305* results in a premature truncation of the Tp53 protein at amino acid 305 of 393 (UniProt.org). K305* has not been biochemically characterized however, due to the effects of truncation mutations downstream of K305 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
K305M | missense | unknown | TP53 K305M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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 DNA-binding domain of the Tp53 protein (PMID: 22713868). 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 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 DNA-binding domain of the Tp53 protein (PMID: 22713868). K305T has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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 compared 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 lead to 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, Feb 2024). | |
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. | |
K382Nfs*96 | frameshift | unknown | TP53 K382Nfs*96 indicates a shift in the reading frame starting at amino acid 382 and terminating 96 residues downstream, resulting in premature truncation of the functional protein and extension of the 393 aa Tp53 protein length by 85 amino acids (UniProt.org). K382Nfs*96 has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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). L111fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of L111 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, PMID: 37745839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
L111Q | missense | unknown | TP53 L111Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Feb 2024). | |
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). L114fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of L114 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
L130F | missense | unknown | TP53 L130F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130F has been identified in the scientific literature (PMID: 35118995, PMID: 38254847), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
L130V | missense | unknown | TP53 L130V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130V supports cell proliferation in culture (PMID: 29379162), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Feb 2024). | |
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, Feb 2024). | |
L145P | missense | unknown | TP53 L145P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L145P has been identified in sequencing studies (PMID: 33933163), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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, Feb 2024). | |
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). | |
L194H | missense | unknown | TP53 L194H lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). L194H is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 34584144), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). | |
L201Ffs*8 | frameshift | loss of function - predicted | TP53 L201Ffs*8 indicates a shift in the reading frame starting at amino acid 201 and terminating 8 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). L201Ffs* has not been biochemically characterized however, due to the effects of truncation mutations downstream of L201 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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, Feb 2024). | |
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, Feb 2024). | |
L252_I254del | deletion | unknown | TP53 L252_I254del results in the deletion of three amino acids in the DNA-binding region of the Tp53 protein from amino acids 252 to 254 (UniProt.org). L252_I254del has been identified in sequencing studies (PMID: 27756888, PMID: 32453797), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
L252_I254dup | duplication | unknown | TP53 L252_I254dup indicates the insertion of three duplicate amino acids, leucine (L)-252 through isoleucine (I)-254, in the DNA-binding domain of the Tp53 protein (PMID: 22713868). L252_I254dup has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2024). | |
L257Gfs*6 | frameshift | loss of function - predicted | TP53 L257Gfs*6 indicates a shift in the reading frame starting at amino acid 257 and terminating 6 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). L257Gfs*6 has not been biochemically characterized however, due to the effects of truncation mutations downstream of L257 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
L257V | missense | unknown | TP53 L257V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L257V has been identified in sequencing studies (PMID: 33569316, PMID: 33251333, PMID: 31922633), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
L289D | missense | loss of function - predicted | TP53 L289D lies within the DNA-binding domain 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 lead to 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 lead to 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, Sep 2023). | |
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, Feb 2024). | |
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, resistance to apoptosis, failure of G1 arrest in cell culture (PMID: 16492679, PMID: 20080630, PMID: 31395785), increased colony formation compared to wild-type in the presence of an MDM2 antagonist in cell culture, and tumor growth in mouse models (PMID: 35165384). | |
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, Feb 2024). | |
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, Feb 2024). | |
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. | |
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. | |
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) in an in vitro assay (PMID: 16951253), and therefore, is predicted to lead to 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. | |
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). M40fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M40 (PMID: 31081129, PMID: 34045312), 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). M44fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M44 (PMID: 31081129, PMID: 34045312), 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: 22713868). 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, Feb 2024). | |
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). N131fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N131 (PMID: 31081129, PMID: 34045312), 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: 22713868). 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, Feb 2024). | |
N131S | missense | unknown | TP53 N131S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Feb 2024). | |
N131T | missense | unknown | TP53 N131T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Feb 2024). | |
N200K | missense | unknown | TP53 N200K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Feb 2024). | |
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: 22713868). 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, Feb 2024). | |
N235_Y236dup | duplication | unknown | TP53 N235_Y236dup indicates the insertion of two duplicate amino acids, asparagine (N)-235 through tyrosine (Y)-236, in the DNA-binding domain of the Tp53 protein (UniProt.org). N235_Y236dup has been identified in sequencing studies (PMID: 37792634), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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. | |
N239I | missense | unknown | TP53 N239I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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, Feb 2024). | |
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. | |
N239_C242del | deletion | unknown | TP53 N239_C242del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 239 to 242 (PMID: 22713868, PMID: 38140788). N239_C242del has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2024). | |
N247D | missense | unknown | TP53 N247D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N247D has been identified in the scientific literature (PMID: 22866089, PMID: 35978873, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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: 22713868). 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, Feb 2024). | |
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. | |
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). N30fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N30 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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* results in oligomerization potential similar to wild-type Tp53, 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 characterized in human cells and therefore, its effect on Tp53 protein function is unknown. | |
N345Ifs*26 | frameshift | loss of function | TP53 N345Ifs*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). N345Ifs*26 results in oligomerization potential similar to wild-type Tp53, 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). P128fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P128 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
P12S | missense | unknown | TP53 P12S lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). 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, Dec 2023). | |
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), and results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), but has not been fully biochemically characterized 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: 22713868). 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, Feb 2024). | |
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, PMID: 34099776), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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). P152fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P152 (PMID: 31081129, PMID: 34045312), 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). | |
P152Q | missense | unknown | TP53 P152Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P152Q results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
P191del | deletion | unknown | TP53 P191del results in the deletion of an amino acid in the DNA-binding domain of the Tp53 protein at amino acid 191 (UniProt.org). P191del has been identified in the scientific literature (PMID: 12010886), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). P191fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P191 (PMID: 31081129, PMID: 34045312), 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 effects of truncation mutations downstream of P219 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, Feb 2024). | |
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 fails to inhibit thyroid hormone-activating enzyme, type 2 deiodinase, in culture (PMID: 36871014), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Feb 2024). | |
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 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 in a reporter assay (PMID: 20195489), and therefore, is predicted to lead to 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). | |
P278T | missense | unknown | TP53 P278T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278T 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, Feb 2024). | |
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). P27Lfs*17 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P27 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
P27S | missense | unknown | TP53 P27S lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). P27S has been identified in sequencing studies (PMID: 34974877), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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). P301fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P301 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
P301Q | missense | unknown | TP53 P301Q lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). 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, Feb 2024). | |
P301R | missense | unknown | TP53 P301R lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P301R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
P47S | missense | unknown | TP53 P47S lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). The functional effect of P47S is conflicting, as it results in transactivation activity and growth suppression similar to wild-type in one study (PMID: 25584008), and reduced transactivation of Tp53 targets and resistance to apoptosis in another (PMID: 27034505), and results in increased iron accumulation in macrophages and decreased antibacterial response in mouse models (PMID: 31980600), and therefore, its effect on Tp53 protein function is unknown. | |
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). P72fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P72 (PMID: 31081129, PMID: 34045312), 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 transactivates downstream target genes and inhibits cell growth similar to wild-type Tp53 in culture (PMID: 33257846), 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). P82Gfs*66 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P82 (PMID: 31081129, PMID: 34045312), 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). P82Rfs*41 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P82 (PMID: 31081129, PMID: 34045312), 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). P87Ifs*54 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P87 (PMID: 31081129, PMID: 34045312), 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. P98fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P98 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
Q104* | nonsense | loss of function - predicted | TP53 Q104* results in a premature truncation of the Tp53 protein at amino acid 104 of 393 (UniProt.org). Q104* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q104 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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). Q136* leads to increased proliferation, migration, invasion, and increased Tp53 protein stability (PMID: 37030635) and, due to the effects of truncation mutations downstream of Q136 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
Q144* | nonsense | loss of function - predicted | TP53 Q144* results in a premature truncation of the Tp53 protein at amino acid 144 of 393 (UniProt.org). Q144* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q144 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
Q144H | missense | unknown | TP53 Q144H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Q144H has been identified in the scientific literature (PMID: 12010886), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). Q165* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q165 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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). Q192* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q192 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, Sep 2023). | |
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). Q317* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q317 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein 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 biochemically characterized however, due to the effects of truncation mutations downstream of Q331 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
Q331H | missense | unknown | TP53 Q331H lies within the tetramerization domain 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). Q52Lfs*68 has not been biochemically characterized however, due to the effects of truncation mutations downstream of Q52 (PMID: 31081129, PMID: 34045312), 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 culture (PMID: 31081129), and therefore, is predicted to lead to 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). R110Vfs*13 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R110 (PMID: 31081129, PMID: 34045312), 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 results in induction of apoptosis similar 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, Feb 2024). | |
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). R158fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R158 (PMID: 31081129, PMID: 34045312), 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 retains activation of Cdkn1a and results in DNA-binding similar to wild-type Tp53 in culture (PMID: 32350249) but leads to the loss of DNA-binding activity in an in vitro assay, interferes with transactivation by wild-type Tp73 in yeast (PMID: 9472631, PMID: 12917626), and results in reduced Pmaip1 transcription, increased motility and anchorage-independent cell growth in culture and increased tumor growth in a mouse model (PMID: 32350249), and therefore, is predicted to lead to 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, Feb 2024). | |
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, Feb 2024). | |
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, Feb 2024). | |
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 decrease in Tp53 DNA-binding affinity and stability in cell culture (PMID: 10713666), and therefore, is predicted to lead to 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 lead to 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 leads to increased Nek2 expression in culture (PMID: 35088582) and results in a loss of DNA binding, decreased activation of Tp53 targets and interferes with activation by wild-type Tp53, resistance to apoptosis, failure of G1 arrest, decreased genomic stability, promotes tumorigenesis, proliferation, migration, invasion, and stability, 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, PMID: 37030635). | |
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 (PMID: 8631304, PMID: 14702042), recruitment to DNA damage, ability to recruit 53Bp1 and Ddb1 (PMID: 35235448), and induces p21 expression similar to wild-type Tp53, however, fails to induce apoptosis and reduce colony formation (PMID: 8631304, PMID: 14702042), and results in decreased transcriptional activity in cultured cells (PMID: 35235448), 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 | loss of function - 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), but decreased transactivation activity (PMID: 34907344), and therefore, is predicted to lead to a loss of 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 | TP53 R181P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R181P confers a loss of function to the Tp53 protein as demonstrated by a loss of transactivation activity in cell culture (PMID: 23149933, PMID: 34907344). | |
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, Feb 2024). | |
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). R196* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R196 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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, Feb 2024). | |
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, Feb 2024). | |
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). R209fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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). R209Kfs*6 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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). R213* results in increased proliferation, migration, invasion, and Tp53 protein stability in culture (PMID: 37030635), and due to the effects of truncation mutations downstream of R213 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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). R213fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R213 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, PMID: 28636652, PMID: 34736091), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2024). | |
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 lead to a loss of Tp53 protein function. | |
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, Feb 2024). | |
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 lead to 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 increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), 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 interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), disrupts Dnmt3a complex formation similar to wild-type Tp53 (PMID: 31640986), however, results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), 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). R249Gfs*96 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R249 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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 interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture and increased tumor formation in a mouse model (PMID: 33545063) but confers a loss of function to Tp53 as demonstrated by 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, Feb 2024). | |
R267P | missense | unknown | TP53 R267P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R267P results in impaired transcriptional activation of CCNA2 and CHEK1 (PMID: 28394262), but partially retains transcriptional activation of AXL and p21 in cell culture, leads to increased cell proliferation in culture but suppresses tumor formation in animal models (PMID: 22989750), and therefore, its effect on Tp53 protein function is unknown. | |
R267Q | missense | unknown | TP53 R267Q lies within the DNA-binding domain of the Tp53 protein (UniProt.org). The functional effect of R267Q is conflicting as it has been demonstrated to result in decreased Tp53 transactivation activity in one study (PMID: 10435620), while in another study demonstrates increased activity in culture (PMID: 25584008), and results in decreased ability to suppress growth in cell culture (PMID: 10435620, PMID: 25584008), and therefore, its effect on Tp53 protein function is unknown. | |
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). R273* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R273 (PMID: 31081129, PMID: 34045312), 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 increased proliferation, migration, invasion, and protein stability, and altered subcellular localization in culture (PMID: 37030635), 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 lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R273H results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635), increased Tbk1 interaction leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), disrupts Dnmt3a complex formation similar to wild-type Tp53 (PMID: 31640986), however, results in loss of DNA binding, decreased Tp53 target gene expression, apoptosis resistance, and failure of G1 arrest in culture (PMID: 31395785), and confers a gain of function to Tp53 resulting in aberrant transcriptional activation and increased 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, Feb 2024). | |
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 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, Feb 2024). | |
R280K | missense | gain of function | TP53 R280K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R280K results in interaction with Tbk1 leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), 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 is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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). R282fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R282 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
R282G | missense | loss of function | TP53 R282G is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R282G results in subcellular localization similar to wild-type in Tp53-null cells, but leads to increased cellular growth rate, decreased transactivation of Tp53 target genes (PMID: 23246812), increased Nek2 expression in cell culture (PMID: 35088582), and reduced apoptotic function in cell culture (PMID: 23246812). | |
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, Feb 2024). | |
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 increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), 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). R283Afs*62 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R283 (PMID: 31081129, PMID: 34045312), 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 results in loss of Tp53-mediated transcriptional activation in cell culture (PMID: 14690015), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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). R306* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R306 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein 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 biochemically characterized however, due to the effects of truncation mutations downstream of R333 (PMID: 31081129, PMID: 34045312), 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 biochemically characterized however, due to the effects of truncation mutations downstream of R333 (PMID: 31081129, PMID: 34045312), 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 biochemically characterized however, due to the effects of truncation mutations downstream of R335 (PMID: 31081129, PMID: 34045312), 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, loss of Tp53 transcriptional activity, decreased apoptotic response to irradiation in cell culture (PMID: 19454241, PMID: 9150393), increased colony formation compared to wild-type in the presence of an MDM2 antagonist in cell culture, and tumor growth in mouse models (PMID: 35165384). | |
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* results in increased proliferation, migration, invasion, and protein stability and altered subcellular expression in culture (PMID: 37030635), and 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 lead to a 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). R65* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R65 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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, Feb 2024). | |
S116C | missense | unknown | TP53 S116C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S116C is predicted to destabilize the Tp53 protein by computational mutagenesis (PMID: 15683227), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
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, Feb 2024). | |
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, Feb 2024). | |
S149C | missense | unknown | TP53 S149C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S149C has been identified in the scientific literature (PMID: 17294448), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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). S149fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S149 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
S166Cfs*6 | frameshift | loss of function - predicted | TP53 S166Cfs*6 indicates a shift in the reading frame starting at amino acid 166 and terminating six residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S166Cfs*6 has not been biochemically characterized however, due to the effects of truncation mutations downstream of S166 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
S166Yfs*4 | frameshift | loss of function - predicted | TP53 S166Yfs*4 indicates a shift in the reading frame starting at amino acid 166 and terminating four residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). S166Yfs*4 has not been biochemically characterized however, due to the effects of truncation mutations downstream of S166 (PMID: 31081129, PMID: 34045312), 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). S183* has not been biochemically characterized however, due to the effects of truncation mutations downstream of S183 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
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). S20fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S20 (PMID: 31081129, PMID: 34045312), 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). S215fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S215 (PMID: 31081129, PMID: 34045312), 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 is predicted to result in a constitutively active S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Feb 2024). | |
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). S227fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S227 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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, Feb 2024). | |
S240I | missense | unknown | TP53 S240I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). 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), and therefore, its effect on Tp53 protein function is unknown. | |
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 lead to 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: 22713868). 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, Feb 2024). | |
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). | |
S241fs | frameshift | loss of function - predicted | TP53 S241fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 241 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S241fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S241 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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, Sep 2023). | |
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, Sep 2023). | |
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, Sep 2023). | |
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, Feb 2024). | |
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, Sep 2023). | |
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, Sep 2023). | |
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). S46fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S46 (PMID: 31081129, PMID: 34045312), 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). S90fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S90 (PMID: 31081129, PMID: 34045312), 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). S94* has not been biochemically characterized however, due to the effects of truncation mutations downstream of S94 (PMID: 31081129, PMID: 34045312), 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: 37563300, PMID: 19336573, PMID: 27574101), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Sep 2023). | |
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, Sep 2023). | |
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, Sep 2023). | |
S9N | missense | unknown | TP53 S9N lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). 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, Dec 2023). | |
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 lead to 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). T118fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T118 (PMID: 31081129, PMID: 34045312), 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). T118Qfs*5 has not been biochemically characterized however, due to the effects of truncation mutations downstream of T118 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
T125A | missense | loss of function | TP53 T125A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T125A results in subcellular localization similar to wild-type Tp53 in culture (PMID: 34675114), but reduced Tp53 DNA-binding ability in an in vitro assay (PMID: 16687402), increased Igf2 activation (PMID: 10949925) and altered splicing in culture, and decreased transactivation activity in a luciferase assay (PMID: 34675114). | |
T140I | missense | unknown | TP53 T140I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T140I is predicted to destabilize the S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Sep 2023). | |
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 (PMID: 22713868). T140_C141del has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2024). | |
T150fs | frameshift | loss of function - predicted | TP53 T150fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 150 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T150fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T150 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
T150R | missense | unknown | TP53 T150R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T150R has been identified in the scientific literature (PMID: 17294448, PMID: 12010886), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
T150_P151del | deletion | unknown | TP53 T150_P151del results in the deletion of two amino acids in the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein from amino acids 150 to 151 (UniProt.org). T150_P151del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
T155fs | frameshift | loss of function - predicted | TP53 T155fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 155 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T155fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T155 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
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: 36979829, PMID: 37185420, PMID: 30107178), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Feb 2024). | |
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). T211Ffs*4 has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
T211I | missense | loss of function | 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 the corresponding mouse variant (T208I) leads to tumor formation (PMID: 35165384). | |
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, Sep 2023). | |
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 biochemically characterized, and therefore, its effect on Tp53 protein function is unknown. | |
T253_L257del | deletion | unknown | TP53 T253_L257del results in the deletion of five amino acids in the DNA-binding region of the Tp53 protein from amino acids 253 to 257 (UniProt.org). T253_L257del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
T256fs | frameshift | loss of function - predicted | TP53 T256fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 256 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T256fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T256 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
T256I | missense | unknown | TP53 T256I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T256I is predicted to have no effect on protein stability by structural modeling (PMID: 36359870), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, PMID: 36906072), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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 biochemically characterized however, due to the effects of truncation mutations downstream of T329 (PMID: 31081129, PMID: 34045312), 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, PMID: 35043155), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Sep 2023). | |
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). V122fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V122 (PMID: 31081129, PMID: 34045312), 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, Sep 2023). | |
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, Sep 2023). | |
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, PMID: 34746887), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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 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. | |
V157_I162del | deletion | unknown | TP53 V157_I162del results in the deletion of six amino acids in the DNA-binding region of the Tp53 protein from amino acids 157 to 162 (UniProt.org). V157_I162del has been identified in sequencing studies (PMID: 33754015), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
V172F | missense | loss of function - predicted | TP53 V172F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V172F results in enhanced interaction with Mdm4 and confers context-dependent alterations in Tp53 stability (PMID: 26876197), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
V173A | missense | loss of function - predicted | TP53 V173A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173A demonstrates reduced transactivation activity in cell culture (PMID: 10617466), and therefore, is predicted to lead to 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, Feb 2024). | |
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 lead to 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, PMID: 35181986), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). | |
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, Sep 2023). | |
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: 34497363, PMID: 35438902, PMID: 30416685), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
V203M | missense | unknown | TP53 V203M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203M has been identified in the scientific literature (PMID: 34605602), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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, Sep 2023). | |
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 lead to 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, Feb 2024). | |
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, Feb 2024). | |
V272L | missense | loss of function - predicted | TP53 V272L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V272L results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635) and demonstrates transcription activity similar to wild-type Tp53 in yeast (PMID: 20407015), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
V272M | missense | loss of function | TP53 V272M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V272M results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), 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, Feb 2024). | |
V274D | missense | unknown | TP53 V274D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V274D has been identified in the scientific literature (PMID: 22037554, PMID: 37543610), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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). V274fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V274 (PMID: 31081129, PMID: 34045312), 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). W146* has not been biochemically characterized however, due to the effects of truncation mutations downstream of W146 (PMID: 31081129, PMID: 34045312), 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). W53* has not been biochemically characterized however, due to the effects of truncation mutations downstream of W53 (PMID: 31081129, PMID: 34045312), 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). W91* has not been biochemically characterized however, due to the effects of truncation mutations downstream of W91 (PMID: 31081129, PMID: 34045312), 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). W91fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of W91 (PMID: 31081129, PMID: 34045312), 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 lead to 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). Y103* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y103 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
Y103fs | frameshift | loss of function - predicted | TP53 Y103fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 103 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Y103fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y103 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
Y103Sfs*18 | frameshift | loss of function - predicted | TP53 Y103Sfs*18 indicates a shift in the reading frame starting at amino acid 103 and terminating 18 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). Y103Sfs*18 has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y103 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. | |
Y107H | missense | unknown | 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 in one study (PMID: 33257846), however, results in decreased suppression of colony formation in TP53-null cells, increased sensitivity to DNA-damaging agents, altered transactivation of a subset of target genes, and impaired chromatin binding in culture and increased tumor formation in mouse models in another study (PMID: 37140445), and therefore, its effect on Tp53 protein function is unknown | |
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, Sep 2023). | |
Y126C | missense | loss of function - predicted | TP53 Y126C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126C results in decreased transactivation activity in cultured cells (PMID: 20505364), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
Y126H | missense | loss of function | TP53 Y126H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126H results in subcellular localization similar to wild-type protein in Tp53-null cells, but leads to increased cellular growth rate, decreased transactivation of Tp53 target genes (PMID: 23246812), increased Nek2 expression in cell culture (PMID: 35088582), and reduced apoptotic function in cell culture (PMID: 23246812). | |
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. | |
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). Y!63* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y163 (PMID: 31081129, PMID: 34045312), 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, Feb 2024). | |
Y163N | missense | loss of function | TP53 Y163N lies within the DNA-binding domain of the Tp53 protein (UniProt.org). Y163N confers a loss of function to Tp53 as demonstrated by a loss of cell growth arrest, decreased induction of apoptosis, and transformation in cell culture (PMID: 10229196). | |
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). Y205* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y205 (PMID: 31081129, PMID: 34045312), is predicted to lead to 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 increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635) and 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). | |
Y220D | missense | unknown | TP53 Y220D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220D is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31990523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
Y220F | missense | unknown | TP53 Y220F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220F results in decreased proteasome activity leading to increased Tp53 protein expression in culture (PMID: 20153923), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. | |
Y220H | missense | unknown | TP53 Y220H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220H is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31990523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
Y220N | missense | unknown | TP53 Y220N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220N is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31990523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024). | |
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 structural modeling (PMID: 31128451), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2024). | |
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 the scientific literature (PMID: 24667986, PMID: 24662767, PMID: 35083778), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2023). | |
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. | |
Y236H | missense | loss of function - predicted | TP53 Y236H lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Y236H results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635), and therefore, is predicted to lead to a loss of Tp53 protein function. | |
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. |