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Gene CHEK2
Variant Y424H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 Y424H lies within the protein kinase domain of the Chek2 protein (UniProt.org). Y424H results in Kap1 phosphorylation simliar to wild-type in cultured cells but decreased Kap1 phosphorylation in an in vitro assay (PMID: 31050813) and loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 Y424H

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Transcript NM_007194.4
gDNA chr22:g.28695232A>G
cDNA c.1270T>C
Protein p.Y424H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28695232A>G c.1270T>C p.Y424H RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695232A>G c.1270T>C p.Y424H RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695232A>G c.1270T>C p.Y424H 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
CHEK2 Y424H loss of function - predicted Olaparib