Gene Variant Detail

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Gene ATM
Variant E2668G
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM E2668G does not lie within any known functional domains of the Atm protein (UniProt.org). E2668G demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM E2668G

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Transcript NM_000051.3
gDNA chr11:g.108333961A>G
cDNA c.8003A>G
Protein p.E2668G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_011542843 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_011542840 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
NM_000051 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_017017789 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_005271562 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_005271561 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38
XM_006718843 chr11:g.108333961A>G c.8003A>G p.E2668G RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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