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Gene | ATM |
Variant | D2725V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in sequencing studies (PMID: 24825865, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM D2725V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108335867A>T |
cDNA | c.8174A>T |
Protein | p.D2725V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |