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Gene | TP53 |
Variant | G334R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 G334R lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). The functional effect of G334R is conflicting as it demonstrates Tp53 transactivation activity in a luciferase assay and suppresses colony formation in cell culture (PMID: 25584008), however, results in similar induction of MDM2 and p21, but decreased transactivation of a subset of Tp53 target genes including RRAD (PMID: 36749725), PADI4 (PMID: 37140445), PLTP (PMID: 36309086), PCLO, PLXNB3, and LCN15 with Nutlin treatment and decreased colony suppression in another study (PMID: 32675277), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 G334R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670709C>T |
cDNA | c.1000G>A |
Protein | p.G334R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670709C>T | c.1000G>A | p.G334R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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