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Gene | ATR |
Variant | R1886* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATR R1886* results in a premature truncation of the Atr protein at amino acid 1886 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), R1886* is predicted to lead to a loss of Atr protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATR mutant ATR inact mut ATR R1886* |
Transcript | NM_001184.4 |
gDNA | chr3:g.142497095G>A |
cDNA | c.5656C>T |
Protein | p.R1886* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047448363.1 | chr3:g.142497095G>A | c.5656C>T | p.R1886* | RefSeq | GRCh38/hg38 |
NM_001184.3 | chr3:g.142497095G>A | c.5656C>T | p.R1886* | RefSeq | GRCh38/hg38 |
NM_001184.4 | chr3:g.142497095G>A | c.5656C>T | p.R1886* | RefSeq | GRCh38/hg38 |
NM_001184 | chr3:g.142497095G>A | c.5656C>T | p.R1886* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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