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Gene | TP53 |
Variant | Y163* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 Y163* results in a premature truncation of the Tp53 protein at amino acid 163 of 393 (UniProt.org). Y!63* has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y163 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 Y163* TP53 mutant TP53 inact mut TP53 Y163* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675123G>T |
cDNA | c.489C>A |
Protein | p.Y163* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407270.1 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675123G>T | c.489C>A | p.Y163* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 Y163* | ovarian cancer | predicted - sensitive | Adavosertib + Carboplatin | Case Reports/Case Series | Actionable | In a Phase II trial, Paraplatin (carboplatin) and Adavosertib (MK-1775) combination treatment resulted in partial response in an ovarian cancer patient harboring TP53 Y163* (PMID: 27998224; NCT01164995). | 27998224 |