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Gene CHEK2
Variant E351K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E351K lies within the protein kinase domain of the Chek2 protein (UniProt.org). E351K results in decreased Chek2 protein expression and phosphorylation in cultured cells and leads to a loss of growth inhibition in response to DNA damage (PMID: 33606978).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E351K

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Transcript NM_007194.4
gDNA chr22:g.28696945C>T
cDNA c.1051G>A
Protein p.E351K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441105.1 chr22:g.28699924C>T c.1051G>A p.E351K RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28699924C>T c.1051G>A p.E351K RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28699924C>T c.1051G>A p.E351K RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28696945C>T c.1051G>A p.E351K RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28696945C>T c.1051G>A p.E351K RefSeq GRCh38/hg38

Filtering

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