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| Gene | ATR |
| Variant | I774Yfs*5 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ATR I774Yfs*5 indicates a shift in the reading frame beginning at amino acid 774 and terminating 5 residues downstream causing a premature truncation of the 2644 amino acid Atr protein (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), I774Yfs*5 is predicted to lead to a loss of Atr protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ATR mutant ATR inact mut ATR I774fs ATR I774Yfs*5 |
| Transcript | NM_001184.4 |
| gDNA | chr3:g.142555907delT |
| cDNA | c.2320delA |
| Protein | p.I774Yfs*5 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001184 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_011512926 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_011512924 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| NM_001184.3 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_011512924.2 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_047448360.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_047448361.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_047448362.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_047448364.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_011512924.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| NM_001184.4 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| XM_047448363.1 | chr3:g.142555907delT | c.2320delA | p.I774Yfs*5 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATR I774Yfs*5 | loss of function - predicted |