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Gene | TP53 |
Variant | P190R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 P190R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P190R results in a partial loss of transactivation in a reporter assay (PMID: 28499267), and fails to activate the TREM2 promoter (PMID: 29842899), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 P190R TP53 mutant TP53 inact mut TP53 P190R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674962G>C |
cDNA | c.569C>G |
Protein | p.P190R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |