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| Gene | ATM |
| Variant | D2913Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM D2913Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2913Y has been identified in sequencing studies (PMID: 22071889, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM D2913Y |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108353831G>T |
| cDNA | c.8737G>T |
| Protein | p.D2913Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017017790.3 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| XM_047426976.1 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| XM_006718843.5 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| NM_000051.4 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| XM_011542840.4 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| XM_047426975.1 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| NM_001351834.2 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| XM_005271562.6 | chr11:g.108353831G>T | c.8737G>T | p.D2913Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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