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Gene | ATM |
Variant | G2867R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM G2867R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2867R confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM G2867R |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347293G>A |
cDNA | c.8599G>A |
Protein | p.G2867R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |