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Gene | TP53 |
Variant | L344A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L344A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344A results in increased binding to the N-terminal domain of Mdm2 in an in vitro assay, increased cytoplasmic localization of Tp53 in the presence of Mdm2 in cultured cells (PMID: 29549180), decreased oligomerization (PMID: 30174797), and decreased activation of the downstream target genes Mdm2, Puma, Noxa and Ddb2 in cultured cells (PMID: 24006363). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 L344A TP53 mutant TP53 inact mut TP53 L344A |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670678_7670679delCTinsGC |
cDNA | c.1030_1031delCTinsGC |
Protein | p.L344A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407262.1 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7669643_7669644delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670678_7670679delCTinsGC | c.1030_1031delCTinsGC | p.L344A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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