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Gene | TP53 |
Variant | C135Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C135Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C135Y confers a loss of function to the Tp53 protein as demonstrated by loss of binding to the Drosha complex and inability to induce downstream miRs and loss of transactivation activity in cell culture (PMID: 19626115, PMID: 8336941). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 C135Y TP53 mutant TP53 inact mut TP53 C135Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675208C>T |
cDNA | c.404G>A |
Protein | p.C135Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407270.1 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675208C>T | c.404G>A | p.C135Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 C135Y | peritoneum 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 peritoneum cancer cells harboring TP53 C135Y in culture (PMID: 27179933). | 27179933 |