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Gene | TP53 |
Variant | V216G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 V216G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V216G results in failure to induce apoptosis in Tp53-null cells in culture (PMID: 30840781), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 V216G TP53 mutant TP53 inact mut TP53 V216G |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674884A>C |
cDNA | c.647T>G |
Protein | p.V216G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |