CHEK2 R474H
Gene Variant Detail

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Gene CHEK2
Variant R474H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R474H lies within the protein kinase domain of the Chek2 protein (UniProt.org). R474H results in decreased Chek2 protein stability in culture (PMID: 34903604), loss of Kap1 phosphorylation at serine (S)-473 compared to wild-type Chek2 in culture and in vitro assays (PMID: 31050813, PMID: 34903604), and decreased Chek2 autophosphorylation in CHEK2-null cells in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R474H

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Transcript NM_007194.4
gDNA chr22:g.28694072C>T
cDNA c.1421G>A
Protein p.R474H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.1 chr22:g.28695209_28695211delAGGinsCAT c.1420_1422delAGGinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28689198_28689200delAGAinsCAT c.1420_1422delAGAinsCAT p.R474H RefSeq GRCh38/hg38
NM_001005735 chr22:g.28695209_28695211delCCTinsATG c.1420_1422delAGGinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28689198_28689200delAGAinsCAT c.1420_1422delAGAinsCAT p.R474H RefSeq GRCh38/hg38
NM_007194 chr22:g.28694072C>T c.1421G>A p.R474H RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28695209_28695211delAGGinsCAT c.1420_1422delAGGinsCAT p.R474H 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")

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