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Gene | TP53 |
Variant | E343A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 E343A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). E343A results in altered oligomerization of Tp53 in in vitro assays (PMID: 25794615, PMID: 29549180), and increased Mdm2-mediated degradation and decreased Tp53 ubiquitination in cultured cells (PMID: 29549180), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 E343A TP53 mutant TP53 inact mut TP53 E343A |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670681T>G |
cDNA | c.1028A>C |
Protein | p.E343A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407266.1 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670681T>G | c.1028A>C | p.E343A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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