ATM R2227C
Gene Variant Detail

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Gene ATM
Variant R2227C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2227C lies within the FAT domain of the Atm protein (UniProt.org). R2227C results in reduced Atm protein expression, loss of Atm autophosphorylation and Smc1 phosphorylation, and intermediate radiosensitivity of cultured cells (PMID: 18634022), 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 R2227C

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Transcript NM_000051.4
gDNA chr11:g.108325416C>T
cDNA c.6679C>T
Protein p.R2227C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.4 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108325416C>T c.6679C>T p.R2227C RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries