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Gene | ATM |
Variant | N2875H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM N2875H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875H has been identified in the scientific literature (PMID: 26510020), 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 N2875H |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347317A>C |
cDNA | c.8623A>C |
Protein | p.N2875H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |