Gene Variant Detail

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Gene CHEK2
Variant C243R
Impact List missense
Protein Effect no effect
Gene Variant Descriptions CHEK2 C243R lies within the protein kinase domain of the Chek2 protein (UniProt.org). C243R results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and leads to levels of Kap1 phosphorylation at serine (S)-473 similar to wild-type Chek2 in cell culture (PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 C243R

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Transcript NM_007194.4
gDNA chr22:g.28711974A>G
cDNA c.727T>C
Protein p.C243R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862 chr22:g.28711974A>G c.727T>C p.C243R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711974A>G c.727T>C p.C243R RefSeq GRCh38/hg38
NM_007194 chr22:g.28711974A>G c.727T>C p.C243R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711974A>G c.727T>C p.C243R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711974A>G c.727T>C p.C243R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711974A>G c.727T>C p.C243R 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