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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*

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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_001407263.1 chr17:g.7669629C>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_001276760.3 chr17:g.7669629C>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_000546.5 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_001407266.1 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_000546.6 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_001407262.1 chr17:g.7670664C>A c.1045G>T p.E349* RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670664C>A c.1045G>T p.E349* RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries