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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001276697 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276698.3 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276698 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276697.1 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276698.1 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276699.1 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276699.3 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276699 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675996T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
NM_001276697.3 | chr17:g.7673770T>C | c.373A>G | p.T125A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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