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Gene | TP53 |
Variant | M246R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 M246R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M246R results in a loss of Tp53 binding to SV40 large T-antigen (LTag) in an in vitro assay (PMID: 16951253), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 M246R TP53 mutant TP53 inact mut TP53 M246R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674226A>C |
cDNA | c.737T>G |
Protein | p.M246R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |