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ATM C2464R - Gene Variant Detail

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Gene ATM
Variant C2464R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM C2464R lies within the FAT domain of the Atm protein (UniProt.org). C2464R results in kinase activity, and rescue of radiosensitivity and radiation-induced chromosome aberration levels similar to wild-type Atm in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM C2464R

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Transcript NM_000051.4
gDNA chr11:g.108330296T>C
cDNA c.7390T>C
Protein p.C2464R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843.4 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108330296T>C c.7390T>C p.C2464R RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108330296T>C c.7390T>C p.C2464R 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 )
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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