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Gene | TP53 |
Variant | G117E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 G117E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G117E results in decreased Tp53 transcriptional activity in a yeast assay (PMID: 11429700), but has not been characterized in human cells and therefore, its effect on Tp53 function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 G117E |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676019C>T |
cDNA | c.350G>A |
Protein | p.G117E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |