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Gene CHEK2
Variant R474C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R474C lies within the protein kinase domain of the Chek2 protein (UniProt.org). R474C confers a loss of function to Chek2 as demonstrated by decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), decreased protein expression, and decreased autophosphorylation upon irradiation in culture (PMID: 27900359).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R474C

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Transcript NM_007194.4
gDNA chr22:g.28694073G>A
cDNA c.1420C>T
Protein p.R474C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735 chr22:g.28695209_28695211delCCTinsACA c.1420_1422delAGGinsTGT p.R474C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28694073G>A c.1420C>T p.R474C RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28695209_28695211delAGGinsTGT c.1420_1422delAGGinsTGT p.R474C RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28689198_28689200delAGAinsTGT c.1420_1422delAGAinsTGT p.R474C RefSeq GRCh38/hg38
NM_007194 chr22:g.28694073G>A c.1420C>T p.R474C RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28689198_28689200delAGAinsTGT c.1420_1422delAGAinsTGT p.R474C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694073G>A c.1420C>T p.R474C RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28695209_28695211delAGGinsTGT c.1420_1422delAGGinsTGT p.R474C 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

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Molecular Profile Protein Effect Treatment Approaches
CHEK2 R474C loss of function Olaparib