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Gene | TP53 |
Variant | C176R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C176R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176R has been identified in the scientific literature (PMID: 33250737, PMID: 37379264), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 C176R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675086A>G |
cDNA | c.526T>C |
Protein | p.C176R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675086A>G | c.526T>C | p.C176R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E TP53 C176R | pancreatic adenocarcinoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic pancreatic adenocarcinoma harboring BRAF V600E and TP53 C176R was treated with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) and achieved radiographic and biochemical responses with stabilization or reduction of lesions in the pancreas, lung, and liver, and remained on treatment despite progression of a single liver lesion after 8 months (PMID: 33250737). | 33250737 |