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| Gene | TP53 |
| Variant | G245D |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 G245D is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). G245D results in decreased activation of Tp53 target genes (PMID: 22214764, PMID: 25634208, PMID: 27533082), and also confers a gain of function to Tp53 as demonstrated by aberrant interaction with ZBP-89, as well as induction of FOXM1 expression, and leads to decreased apoptosis in culture and increased tumor growth and metastasis in mouse models (PMID: 22214764, PMID: 29269868). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon7 TP53 G245D TP53 mutant TP53 inact mut TP53 G245D |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7674229C>T |
| cDNA | c.734G>A |
| Protein | p.G245D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407266.1 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126114 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7674229C>T | c.734G>A | p.G245D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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