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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_001126113.2 | 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 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126112.2 | 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 |
NM_000546.5 | 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_001407264.1 | 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_001126112 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675069_7675071delGCGinsCTC | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
NM_001407270.1 | 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_001126114.3 | chr17:g.7675069_7675071delCGCinsGAG | 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_000546.6 | chr17:g.7675069_7675071delCGCinsGAG | c.541_543delCGCinsGAG | p.R181E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TP53 R181E | loss of function |