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Gene | ATM |
Variant | Q2066L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), 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 Q2066L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108316112A>T |
cDNA | c.6197A>T |
Protein | p.Q2066L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |