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| Gene | ATM |
| Variant | E1959K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), 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 E1959K |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108310272G>A |
| cDNA | c.5875G>A |
| Protein | p.E1959K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |