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Gene | TP53 |
Variant | H193R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 H193R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193R results in decreased Tp53 transactivation ability in yeast assays and is predicted to result in decreased Tp53 stability and protein expression by computational modeling (PMID: 9627118, PMID: 21763698), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 H193R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674953T>C |
cDNA | c.578A>G |
Protein | p.H193R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |