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Gene | TP53 |
Variant | H179Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 H179Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179Q results in decreased Tp53 transactivation activity and disruption of the G1 checkpoint in cell culture (PMID: 16209708, PMID: 22540896). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179Q TP53 mutant TP53 inact mut TP53 H179Q |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675075A>T |
cDNA | c.537T>A |
Protein | p.H179Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |