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Gene CHEK2
Variant E394K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E394K lies within the protein kinase domain of the Chek2 protein (UniProt.org). E394K results in a loss of Kap1 phosphorylation at serine (S)-473 as compared to wild-type Chek2 in culture and in vitro assays (PMID: 31050813).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E394K

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Transcript NM_007194.4
gDNA chr22:g.28695789C>T
cDNA c.1180G>A
Protein p.E394K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.1 chr22:g.28696945C>T c.1180G>A p.E394K RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28696945C>T c.1180G>A p.E394K RefSeq GRCh38/hg38
NM_007194 chr22:g.28695789C>T c.1180G>A p.E394K RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695789C>T c.1180G>A p.E394K RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695789C>T c.1180G>A p.E394K RefSeq GRCh38/hg38
NM_001005735 chr22:g.28696945C>T c.1180G>A p.E394K 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