CHEK2 S412R
Gene Variant Detail

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Gene CHEK2
Variant S412R
Impact List missense
Protein Effect loss of function
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 decreased Kap1 phosphorylation and Chek2 autophosphorylation in CHEK2-null cells in culture (PMID: 37449874).
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
XM_047441105.1 chr22:g.28695776_28695777delTCinsCG c.1234_1235delTCinsCG p.S412R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695733A>C c.1236T>G p.S412R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695733A>C c.1236T>G p.S412R RefSeq GRCh38/hg38

Filtering

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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