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Gene | ATM |
Variant | L2077I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696, PMID: 34954471), 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 L2077I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108317403C>A |
cDNA | c.6229C>A |
Protein | p.L2077I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |