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Gene | TP53 |
Variant | R181L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R181L TP53 mutant TP53 inact mut TP53 R181L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675070C>A |
cDNA | c.542G>T |
Protein | p.R181L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R181L | lung adenocarcinoma | sensitive | Doxorubicin + Nutlin-3a | Preclinical - Cell culture | Actionable | In a preclinical study, a lung adenocarcinoma cell line expressing TP53 R181L demonstrated enhanced sensitivity to Adriamycin (doxorubicin) treatment when combined with Nutlin-3, and induced apoptosis in culture (PMID: 31483066). | 31483066 |