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Gene CHEK2
Variant R521W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R521W does not lie within any known functional domains of the Chek2 protein (UniProt.org). R521W results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), but results in intermediate levels of Kap1 and Chek2 phosphorylation upon ionizing radiation and reduced protein stability in cell culture (PMID: 34903604), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R521W

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Transcript NM_007194.4
gDNA chr22:g.28687968G>A
cDNA c.1561C>T
Protein p.R521W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28687968G>A c.1561C>T p.R521W RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28687924_28687926delCGCinsTGG c.1561_1563delCGCinsTGG p.R521W RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28687972_28687974delCGAinsTGG c.1561_1563delCGAinsTGG p.R521W RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28687968G>A c.1561C>T p.R521W RefSeq GRCh38/hg38
NM_007194 chr22:g.28687968G>A c.1561C>T p.R521W RefSeq GRCh38/hg38

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  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries