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Gene | TP53 |
Variant | R175L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R175X TP53 R175L TP53 mutant TP53 inact mut TP53 R175L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675088C>A |
cDNA | c.524G>T |
Protein | p.R175L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.5 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675088C>A | c.524G>T | p.R175L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R175L | colorectal cancer | sensitive | NSC59984 | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with NSC59984 resulted in increased degradation of mutant Tp53 and cell death in a colorectal cancer cell line harboring TP53 R175L in culture (PMID: 26294215). | 26294215 |
TP53 R175L | lung large cell carcinoma | sensitive | NSC319726 | Preclinical - Cell culture | Actionable | In a preclinical study, lung large cell carcinoma cells harboring TP53 R175L demonstrated increased sensitivity to NSC319726 in culture (PMID: 22624712). | 22624712 |