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Gene CHEK2
Variant S412R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 S412R lies within the protein kinase domain of the Chek2 protein (UniProt.org). S412R 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 S412R

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Transcript NM_007194.4
gDNA chr22:g.28695733A>C
cDNA c.1236T>G
Protein p.S412R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695733A>C c.1236T>G p.S412R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695733A>C c.1236T>G p.S412R RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28695776_28695777delTCinsCG c.1234_1235delTCinsCG p.S412R RefSeq GRCh38/hg38

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