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Gene | ATM |
Variant | N914S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 29107334, PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM N914S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108268512A>G |
cDNA | c.2741A>G |
Protein | p.N914S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |