CHEK2 G229S
Gene Variant Detail

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Gene CHEK2
Variant G229S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G229S lies within the protein kinase domain of the Chek2 protein (UniProt.org). G229S results in reduced phosphorylation of Chek2 and Kap1 upon ionizing radiation in culture (PMID: 34903604), 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 G229S

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Transcript NM_007194.4
gDNA chr22:g.28712016C>T
cDNA c.685G>A
Protein p.G229S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529844.3 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S 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 G229S loss of function - predicted Olaparib