Gene Variant Detail

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Gene ATM
Variant R1575H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions ATM R1575H does not lie within any known functional domains of the Atm protein (UniProt.org). R1575H demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R1575H

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Transcript NM_000051.3
gDNA chr11:g.108293425G>A
cDNA c.4724G>A
Protein p.R1575H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_000051 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017791 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017792 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542843 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108293425G>A c.4724G>A p.R1575H 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