Gene Variant Detail

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Gene CHEK2
Variant G386R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G386R lies within the protein kinase domain of the Chek2 protein (UniProt.org). G386R results in Chek2 protein stability similar to wild-type Chek2, but results in reduced Kap1 phosphorylation and Chek2 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604), and therefore, is predicted to lead to a loss Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 G386R

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Transcript NM_007194.4
gDNA chr22:g.28695813C>T
cDNA c.1156G>A
Protein p.G386R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28695813C>T c.1156G>A p.G386R RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28695843C>T c.1156G>A p.G386R RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28695175C>T c.1156G>A p.G386R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695813C>T c.1156G>A p.G386R RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28695771C>T c.1156G>A p.G386R 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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