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Gene CHEK2
Variant R406H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R406H lies within the protein kinase domain of the Chek2 protein (UniProt.org). R406H results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and intermediate Kap1 phosphorylation levels at serine (S)-473 in culture, but demonstrates conflicting effects on Kap1 phosphorylation in in vitro assays (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R406H

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Transcript NM_007194.4
gDNA chr22:g.28695752C>T
cDNA c.1217G>A
Protein p.R406H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28695752C>T c.1217G>A p.R406H RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28695823_28695825delAGAinsCAT c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28695823_28695825delAGAinsCAT c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695752C>T c.1217G>A p.R406H RefSeq GRCh38/hg38
XM_011529840 chr22:g.28695823_28695825delTCTinsATG c.1216_1218delAGAinsCAT p.R406H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695752C>T c.1217G>A p.R406H 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 R406H unknown