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Gene | TP53 |
Variant | N345Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 N345Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). N345Y results in predominantly monomeric Tp53, but retains transactivation activity in yeast assays (PMID: 16007150), but has has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 N345Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670676T>A |
cDNA | c.1033A>T |
Protein | p.N345Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000546.6 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670676T>A | c.1033A>T | p.N345Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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