CHEK2 G306E
Gene Variant Detail

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Gene CHEK2
Variant G306E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G306E lies within the protein kinase domain of the Chek2 protein (UniProt.org). G306E results in reduced phosphorylation of Chek2 and Kap1 upon ionizing radiation (PMID: 34903604), decreased Kap1 phosphorylation, and intermediate Chek2 autophosphorylation in culture (PMID: 37449874), 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 G306E

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Transcript NM_007194.4
gDNA chr22:g.28699929C>T
cDNA c.917G>A
Protein p.G306E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28699929C>T c.917G>A p.G306E RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699929C>T c.917G>A p.G306E RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699929C>T c.917G>A p.G306E RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28699929C>T c.917G>A p.G306E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References