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Gene | TP53 |
Variant | C238S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 C238S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238S confers of loss of function to Tp53 as demonstrated by Tp53 destabilization and decreased transactivation activity in cell culture (PMID: 25294809). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C238S TP53 mutant TP53 inact mut TP53 C238S |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674251A>T |
cDNA | c.712T>A |
Protein | p.C238S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |