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Gene | TP53 |
Variant | R273L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R273X TP53 R273L TP53 mutant TP53 inact mut TP53 R273L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673802C>A |
cDNA | c.818G>T |
Protein | p.R273L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126114.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673802C>A | c.818G>T | p.R273L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R273L | lung small cell carcinoma | sensitive | APR-246 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, APR-246 demonstrated efficacy in cell line xenograft models of small cell lung cancer harboring TP53 R273L (PMID: 21415220). | 21415220 |