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Gene | TP53 |
Variant | P278R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | 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. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 P278R TP53 mutant TP53 inact mut TP53 P278R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673787G>C |
cDNA | c.833C>G |
Protein | p.P278R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407266.1 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673787G>C | c.833C>G | p.P278R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 P278R | ovarian cancer | sensitive | APR-246 + Cisplatin | Preclinical - Patient cell culture | Actionable | In a preclinical study, the combination of APR-246 and Platinol (cisplatin) resulted in strong synergism, thereby reducing cell viability in patient derived ovarian cancer cells harboring TP53 P278R in culture (PMID: 27179933). | 27179933 |