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| Gene | ATM |
| Variant | E2164G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G has been identified in sequencing studies (PMID: 30503610, PMID: 26878173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM E2164G |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108321339A>G |
| cDNA | c.6491A>G |
| Protein | p.E2164G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |