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Gene | TP53 |
Variant | R273W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R273X TP53 R273W TP53 mutant TP53 inact mut TP53 R273W |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673801_7673803delCGTinsTGG |
cDNA | c.817_819delCGTinsTGG |
Protein | p.R273W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673801_7673803delACGinsCCA | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673801_7673803delACGinsCCA | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673801_7673803delACGinsCCA | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673801_7673803delACGinsCCA | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673801_7673803delCGTinsTGG | c.817_819delCGTinsTGG | p.R273W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R273W | breast cancer | resistant | NSC319726 | Preclinical - Cell culture | Actionable | In a preclinical study, NSC319726 did not inhibit tumor growth in xenograft models of breast cancer harboring TP53 R273W (PMID: 22624712). | 22624712 |