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Gene | ATM |
Variant | L2780R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L2780R |
Transcript | NM_000051.4 |
gDNA | chr11:g.108343292T>G |
cDNA | c.8339T>G |
Protein | p.L2780R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |