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| Gene | ATM |
| Variant | Q1361R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM Q1361R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1631R has been identified in sequencing studies (PMID: 36898365, PMID: 39324485), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM Q1361R |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108287688A>G |
| cDNA | c.4082A>G |
| Protein | p.Q1361R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017017790.3 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_011542840.4 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_011542843.3 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| XM_047426981.1 | chr11:g.108287688A>G | c.4082A>G | p.Q1361R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATM Q1361R | unknown |