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Gene | ATM |
Variant | G2891D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM G2891D lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891D has been identified in the scientific literature (PMID: 34174931, PMID: 31101757, PMID: 38039429), 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 G2891D |
Transcript | NM_000051.4 |
gDNA | chr11:g.108353766G>A |
cDNA | c.8672G>A |
Protein | p.G2891D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |