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Gene | ATM |
Variant | E2294G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM E2294G |
Transcript | NM_000051.4 |
gDNA | chr11:g.108326131A>G |
cDNA | c.6881A>G |
Protein | p.E2294G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |