CHEK2 D438Y
Gene Variant Detail

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Gene CHEK2
Variant D438Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 D438Y lies within the protein kinase domain of the Chek2 protein (UniProt.org). D438Y results in decreased Chek2 kinase activity in an in vitro kinase assay (PMID: 17721994), 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 D438Y

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Transcript NM_007194.4
gDNA chr22:g.28695190C>A
cDNA c.1312G>T
Protein p.D438Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695190C>A c.1312G>T p.D438Y RefSeq GRCh38/hg38
NM_007194 chr22:g.28695190C>A c.1312G>T p.D438Y RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695190C>A c.1312G>T p.D438Y 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References