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Gene | ATR |
Variant | D2494E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATR D2494E lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2494E results in a loss of Atr autophosphorylation and Atr-mediated phosphorylation of p53 and c-jun in cell culture (PMID: 10597277). |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR inact mut ATR D2494E |
Transcript | NM_001184.4 |
gDNA | chr3:g.142458979A>C |
cDNA | c.7482T>G |
Protein | p.D2494E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001184 | chr3:g.142458979A>C | c.7482T>G | p.D2494E | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142458979A>C | c.7482T>G | p.D2494E | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142458979A>C | c.7482T>G | p.D2494E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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