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| Gene | TP53 |
| Variant | K120E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 K120E lies within the DNA binding region of the Tp53 protein (UniProt.org). K120E confers a loss of function to the Tp53 protein as demonstrated by impaired oligomerization of the pro-apoptotic protein Bak, decreased transactivation of Tp53 targets, reduced apoptotic signaling, and decreased colony suppression activity compared to wild-type Tp53 in cell culture (PMID: 18524770, PMID: 27341992). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon4 TP53 K120E TP53 mutant TP53 inact mut TP53 K120E |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7676011T>C |
| cDNA | c.358A>G |
| Protein | p.K120E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |