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ATM G2718_K2756del - Gene Variant Detail

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Gene ATM
Variant G2718_K2756del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM G2718_K2756del results in the deletion of 39 amino acids in the PI3K/PI4K domain of the Atm protein from amino acids 2718 to 2756 (UniProt.org). G2718_K2756del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM G2718_K2756del

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Transcript NM_000051.4
gDNA chr11:g.108335846_108335962del117
cDNA c.8153_8268+1del117
Protein p.G2718_K2756del39
Source Database RefSeq
Genome Build GRCh38/hg38

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