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Gene | TP53 |
Variant | E349* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 E349* results in a premature truncation of the Tp53 protein at amino acid 349 of 393 (UniProt.org). E349* results in a loss of Tp53 protein function, as indicated by decreased transcriptional transactivation activity in a reporter assay, altered subcellular localization, and decreased induction apoptosis in cultured cells (PMID: 31081129). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 E349* TP53 mutant TP53 inact mut TP53 E349* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670664C>A |
cDNA | c.1045G>T |
Protein | p.E349* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7669629C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670664C>A | c.1045G>T | p.E349* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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