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Gene CHEK2
Variant R474L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 R474L lies within the protein kinase domain of the Chek2 protein (UniProt.org). R474L results in reduced Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R474L

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Transcript NM_007194.4
gDNA chr22:g.28694072C>A
cDNA c.1421G>T
Protein p.R474L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28694072C>A c.1421G>T p.R474L RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694072C>A c.1421G>T p.R474L RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28689199_28689200delAGinsCT c.1420_1421delAGinsCT p.R474L RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28695210_28695211delAGinsCT c.1420_1421delAGinsCT p.R474L 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References