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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_001407266.1 | 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 |
| NM_000546.5 | 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_001126112.3 | 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_001407262.1 | 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_001126113 | 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_001126114 | 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_001407264.1 | chr17:g.7675070C>A | c.542G>T | p.R181L | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | 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_001407268.1 | 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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