CHEK2 D347N
Gene Variant Detail

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Gene CHEK2
Variant D347N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 D347N lies within the protein kinase domain of the Chek2 protein (UniProt.org). D347N results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), reduced Kap1 and Chek2 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and decreased Kap1 phosphorylation and Chek2 autophosphorylation in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 D347N

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Transcript NM_007194.4
gDNA chr22:g.28696957C>T
cDNA c.1039G>A
Protein p.D347N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28696957C>T c.1039G>A p.D347N RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28696915C>T c.1039G>A p.D347N RefSeq GRCh38/hg38
NM_007194 chr22:g.28696957C>T c.1039G>A p.D347N RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28696957C>T c.1039G>A p.D347N RefSeq GRCh38/hg38

Filtering

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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")

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