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Gene | TP53 |
Variant | T125A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 T125A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T125A results in subcellular localization similar to wild-type Tp53 in culture (PMID: 34675114), but reduced Tp53 DNA-binding ability in an in vitro assay (PMID: 16687402), increased Igf2 activation (PMID: 10949925) and altered splicing in culture, and decreased transactivation activity in a luciferase assay (PMID: 34675114). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 T125A TP53 mutant TP53 inact mut TP53 T125A |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675996T>C |
cDNA | c.373A>G |
Protein | p.T125A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |