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Gene | TP53 |
Variant | D281G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | TP53 D281G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281G confers a gain of function to Tp53, as indicated by increased transactivation of cytokines compared to wild-type Tp53, increased Rac1 protein activity and cell migration in culture (PMID: 22114072), increased motility and invasiveness in one of two cell lines (PMID: 30968154), and increased TIM50 promoter activity in a reporter assay (PMID: 21621504). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 act mut TP53 D281G TP53 mutant TP53 exon8 TP53 D281G |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673778T>C |
cDNA | c.842A>G |
Protein | p.D281G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |