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Gene | TP53 |
Variant | Y163H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 Y163H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y163H has been identified in the scientific literature (PMID: 27179933, PMID: 17764544, PMID: 28245875), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 Y163H |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675125A>G |
cDNA | c.487T>C |
Protein | p.Y163H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.3 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675125A>G | c.487T>C | p.Y163H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 Y163H | ovarian cancer | sensitive | APR-246 + Cisplatin | Preclinical - Patient cell culture | Actionable | In a preclinical study, the combination of APR-246 and Platinol (cisplatin) resulted in strong synergism, thereby reducing cell viability in patient derived ovarian cancer cells harboring TP53 Y163H in culture (PMID: 27179933). | 27179933 |