Gene Variant Detail

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Gene CHEK2
Variant K224E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 K224E lies within the protein kinase domain of the Chek2 protein (UniProt.org). K224E results in a loss of kinase activity in an in vitro assay (PMID: 22114986), 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 K224E

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Transcript NM_007194.4
gDNA chr22:g.28719408T>C
cDNA c.670A>G
Protein p.K224E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724114 chr22:g.28695852T>C c.670A>G p.K224E RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28695852T>C c.670A>G p.K224E RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28719438T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_145862 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28719438T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_007194 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28719408T>C c.670A>G p.K224E RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28719438T>C c.670A>G p.K224E RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28719438T>C c.670A>G p.K224E 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 )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References