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| Gene | TP53 |
| Variant | L348S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 L348S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L348S results in decreased Tp53 tetramerization and thermal stability in in vitro assays (PMID: 20978130), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon10 TP53 L348S TP53 mutant TP53 inact mut TP53 L348S |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7670666A>G |
| cDNA | c.1043T>C |
| Protein | p.L348S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000546.6 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7670666A>G | c.1043T>C | p.L348S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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