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Gene CHEK2
Variant R181H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions CHEK2 R181H does not lie within any known functional domains of the Chek2 protein (PMID: 31050813). R181H results in Kap1 phosphorylation at serine (S)-473 similar to wild-type Chek2 in cell culture and in vitro assays (PMID: 31050813, PMID: 34903604), and similar cell proliferation in a yeast assay (PMID: 30851065).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R181H

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Transcript NM_007194.4
gDNA chr22:g.28725027C>T
cDNA c.542G>A
Protein p.R181H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38
NM_007194 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38
NM_145862 chr22:g.28725027C>T c.542G>A p.R181H RefSeq GRCh38/hg38

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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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References