CHEK2 C108R
Gene Variant Detail

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Gene CHEK2
Variant C108R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 C108R does not lie within any known functional domains of the Chek2 protein (UniProt.org). C108R confers a loss of function to Chek2 as demonstrated by decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065) and decreased Kap1 phosphorylation and Chek2 autophosphorylation in CHEK2-null cells in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 C108R

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Transcript NM_007194.4
gDNA chr22:g.28725365A>G
cDNA c.322T>C
Protein p.C108R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349956.2 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_007194 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_145862 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725365A>G c.322T>C p.C108R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725365A>G c.322T>C p.C108R 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.
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Molecular Profile Protein Effect Treatment Approaches
CHEK2 C108R loss of function Olaparib