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Gene | TP53 |
Variant | C242Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 C242Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C242Y is predicted to confer a loss of function to the Tp53 protein, as demonstrated by abolished Zbp-89 interaction in culture (PMID: 12759240). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 C242Y TP53 mutant TP53 inact mut TP53 C242Y |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674238C>T |
cDNA | c.725G>A |
Protein | p.C242Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |