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| Gene | TP53 |
| Variant | H179N |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 H179N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179N results in similar Tp53 exonuclease activity compared to wild-type, but leads to decreased DNA binding in an in vitro assay, and decreased apoptotic response to X-Ray in Drosophila expressing the corresponding variant (H159N), and decreased activation of Tp53 target genes in cultured cellls (PMID: 10778859, PMID: 19462533, PMID: 27813088). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179N TP53 mutant TP53 inact mut TP53 H179N |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675077G>T |
| cDNA | c.535C>A |
| Protein | p.H179N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |