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| Gene | ATR |
| Variant | R1647C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATR mutant ATR R1647C |
| Transcript | NM_001184.4 |
| gDNA | chr3:g.142508023G>A |
| cDNA | c.4939C>T |
| Protein | p.R1647C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001184 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
| NM_001184.3 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
| NM_001184.4 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
| XM_047448363.1 | chr3:g.142508023G>A | c.4939C>T | p.R1647C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATR R1647C | unknown |