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Gene | TP53 |
Variant | L330P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 L330P lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330P results in altered Tp53 tetramerization, decreased stability, and decreased ubiquitin-mediated degradation of Tp53 in cultured cells, and decreased activation of p21 and Bax transcription in reporter assays (PMID: 24816189). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon9 TP53 L330P TP53 mutant TP53 inact mut TP53 L330P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673539A>G |
cDNA | c.989T>C |
Protein | p.L330P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407262.1 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407265.1 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673539A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7669685A>G | c.989T>C | p.L330P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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