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Gene | ATM |
Variant | L2890I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L2890I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890I has been identified in sequencing studies (PMID: 32321774, PMID: 33272240), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L2890I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347362C>A |
cDNA | c.8668C>A |
Protein | p.L2890I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |