CHEK2 W93R
Gene Variant Detail

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Gene CHEK2
Variant W93R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 W93R does not lie within any known functional domains of the Chek2 protein (UniProt.org). W93R 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 W93R

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Transcript NM_007194.4
gDNA chr22:g.28734445A>T
cDNA c.277T>A
Protein p.W93R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_145862 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_007194 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734445A>T c.277T>A p.W93R RefSeq GRCh38/hg38

Filtering

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  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References