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Gene ATM
Variant R2912G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM R2912G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2912G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 17166884) and decreased Chk1 phosphorylation compared to wild-type Atm in patient samples (PMID: 17166884), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R2912G

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Transcript NM_000051.4
gDNA chr11:g.108353828A>G
cDNA c.8734A>G
Protein p.R2912G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108353828A>G c.8734A>G p.R2912G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108353828A>G c.8734A>G p.R2912G 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