Gene Variant Detail

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Gene ATM
Variant E2039K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E2039K lies within the FAT domain of the Atm protein (UniProt.org). E2039K results in decreased phosphorylation of Atm 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 E2039K

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Transcript NM_000051.3
gDNA chr11:g.108316030G>A
cDNA c.6115G>A
Protein p.E2039K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542843 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_006718843 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271562 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542840 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017789 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017791 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
NM_000051 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_011542842 chr11:g.108317454G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38
XM_005271561 chr11:g.108316030G>A c.6115G>A p.E2039K RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • 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