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| Gene | TP53 |
| Variant | A138V |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 A138V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A138V fails to both inhibit the interaction between Myb and Hsf3 in cultured cells and transactivate Myb in a reporter assay (PMID: 10747903), results in decreased binding to Tlr3, reduced transactivation of Tlr3 and p21 in a reporter assay, and decreased cytokine induction and failure to increase apoptosis in response to a double-strand RNA synthetic agonist in culture (PMID: 27533082), and results in deceased transactivation of Cep55 in a reporter assay (PMID: 22184120). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 A138V TP53 mutant TP53 inact mut TP53 A138V |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675199G>A |
| cDNA | c.413C>T |
| Protein | p.A138V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126114.3 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7675199G>A | c.413C>T | p.A138V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| TP53 A138V | loss of function | p53 Activator p53 Gene Therapy |