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Gene | TP53 |
Variant | R181E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R181E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181E results in a loss of DNA binding ability and activation of downstream targets, increased accumulation of Tp53, and fails to induce apoptosis and inhibit proliferation in culture, and induces tumor formation in animal models (PMID: 31483066). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R181E TP53 mutant TP53 inact mut TP53 R181E |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675069_7675071delCGCinsGAG |
cDNA | c.541_543delCGCinsGAG |
Protein | p.R181E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R181E | Advanced Solid Tumor | no benefit | Nutlin-3a | Preclinical - Cell culture | Actionable | In a preclinical study, Nutlin-3 treatment did not reduce cell proliferation and viability in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). | 31483066 |
TP53 R181E | lung adenocarcinoma | sensitive | Doxorubicin + Nutlin-3a | Preclinical - Cell culture | Actionable | In a preclinical study, a lung adenocarcinoma cell line expressing TP53 R181E demonstrated enhanced sensitivity to Adriamycin (doxorubicin) treatment when combined with Nutlin-3, and induced apoptosis in culture (PMID: 31483066). | 31483066 |
TP53 R181E | Advanced Solid Tumor | sensitive | Doxorubicin + Nutlin-3a | Preclinical - Cell culture | Actionable | In a preclinical study, Nutlin-3 and Adriamycin (doxorubicin) combination treatment inhibited proliferation and viability of transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). | 31483066 |
TP53 R181E | Advanced Solid Tumor | sensitive | Doxorubicin + Idasanutlin | Preclinical - Cell culture | Actionable | In a preclinical study, Idasanutlin (RG7388) and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). | 31483066 |
TP53 R181E | Advanced Solid Tumor | sensitive | Doxorubicin + RG7112 | Preclinical - Cell culture | Actionable | In a preclinical study, RG7112 (RO5045337) and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). | 31483066 |
TP53 R181E | Advanced Solid Tumor | sensitive | Doxorubicin + SAR405838 | Preclinical - Cell culture | Actionable | In a preclinical study, SAR405838 and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). | 31483066 |