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Gene | ATM |
Variant | L2332P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L2332P |
Transcript | NM_000051.4 |
gDNA | chr11:g.108327664T>C |
cDNA | c.6995T>C |
Protein | p.L2332P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |