ATM G2891D
Gene Variant Detail

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Gene ATM
Variant G2891D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM G2891D lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891D results in reduced Atm expression in patient samples and in cell culture and decreased kinase activity in patient samples, in cell culture, and in an in vitro assay (PMID: 22146522), 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 G2891D

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Transcript NM_000051.4
gDNA chr11:g.108353766G>A
cDNA c.8672G>A
Protein p.G2891D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108353766G>A c.8672G>A p.G2891D RefSeq GRCh38/hg38

Filtering

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References