CHEK2 A247D
Gene Variant Detail

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Gene CHEK2
Variant A247D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 A247D lies within the protein kinase domain of the Chek2 protein (UniProt.org). A247D confers a loss of function to Chek2 as demonstrated by decreased Chek2 protein expression and instability compared to wild-type Chek2 (PMID: 11719428), decreased Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and decreased Kap1 phosphorylation and Chek2 autophosphorylation in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 A247D

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Transcript NM_007194.4
gDNA chr22:g.28711961G>T
cDNA c.740C>A
Protein p.A247D
Source Database RefSeq
Genome Build 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.