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Gene | TP53 |
Variant | P151H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 P151H lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). P151H confers a loss of function to the Tp53 protein as demonstrated by decreased transactivation of select Tp53 targets and inability to repress autophagy in cell culture (PMID: 22673234, PMID: 18818522, PMID: 27533082). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 P151H TP53 mutant TP53 inact mut TP53 P151H |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675160G>T |
cDNA | c.452C>A |
Protein | p.P151H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |