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| Gene | TP53 |
| Variant | V147L |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | TP53 V147L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V147L retains the ability to bind chromatin and the promoter regions of MDM2 and CDKN1A, and to upregulate the expression of PUMA, CDKN1A, and MDM2 genes to similar levels of wild-type protein in culture (PMID: 41504628), and therefore, is predicted to have no effect on Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 V147L |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675173C>G |
| cDNA | c.439G>C |
| Protein | p.V147L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126114 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126112 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126113 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001126113.3 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| NM_000546 | chr17:g.7675173C>G | c.439G>C | p.V147L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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