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ATM K1807E - Gene Variant Detail

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Gene ATM
Variant K1807E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM K1807E does not lie within any known functional domains of the Atm protein (UniProt.org). K1807E results in decreased protein expression and reduced 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 K1807E

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Transcript NM_000051.4
gDNA chr11:g.108302952A>G
cDNA c.5419A>G
Protein p.K1807E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017789 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271561 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542840 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017791 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_006718843 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_011542843 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108302952A>G c.5419A>G p.K1807E RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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