Gene Variant Detail

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Gene CHEK2
Variant K373R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 K373R lies within the protein kinase domain of the Chek2 protein (UniProt.org). K373R results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 K373R

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Transcript NM_007194.4
gDNA chr22:g.28695851T>C
cDNA c.1118A>G
Protein p.K373R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529844 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695851T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529839 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529840 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
NM_007194 chr22:g.28695851T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695851T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28699887T>C c.1118A>G p.K373R RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28699887T>C c.1118A>G p.K373R 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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