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Gene | TP53 |
Variant | E286K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 E286K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286K results in decreased transactivation activity (PMID: 20505364) and loss of type 2 Deiodinase (D2) inhibition in culture (PMID: 36871014), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 E286K TP53 mutant TP53 inact mut TP53 E286K |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673764C>T |
cDNA | c.856G>A |
Protein | p.E286K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |