Gene Variant Detail

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Gene CHEK2
Variant R523C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 R523C does not lie within any known functional domains of the Chek2 protein (UniProt.org). R523C 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 R523C

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Transcript NM_007194.4
gDNA chr22:g.28687962G>A
cDNA c.1567C>T
Protein p.R523C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28687962G>A c.1567C>T p.R523C RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28687966_28687968delCGGinsTGT c.1567_1569delCGGinsTGT p.R523C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28687962G>A c.1567C>T p.R523C RefSeq GRCh38/hg38
XM_017028560 chr22:g.28694047_28694049delTCTinsACA c.1567_1569delAGAinsTGT p.R523C RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28694047_28694049delAGAinsTGT c.1567_1569delAGAinsTGT p.R523C RefSeq GRCh38/hg38
NM_007194 chr22:g.28687962G>A c.1567C>T p.R523C RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28694047_28694049delAGAinsTGT c.1567_1569delAGAinsTGT p.R523C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References