Gene Variant Detail

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Gene ATM
Variant N1650S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM N1650S does not lie within any known functional domains of the Atm protein (UniProt.org). N1650S results in impaired Atm phosphorylation of Tp53 and Chek2 in cultured cells (PMID: 12969974), but in another study restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM N1650S

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Transcript NM_000051.3
gDNA chr11:g.108297326A>G
cDNA c.4949A>G
Protein p.N1650S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.1 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
NM_000051 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017790 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_011542843 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017791 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_011542840 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017789 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_005271562 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_006718843 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_017017792 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38
XM_005271561 chr11:g.108297326A>G c.4949A>G p.N1650S RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References