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Gene | ATM |
Variant | P2842L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L has been identified in sequencing studies (PMID: 24185509, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM P2842L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108345849C>T |
cDNA | c.8525C>T |
Protein | p.P2842L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |