CHEK2 E161del
Gene Variant Detail

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Gene CHEK2
Variant E161del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E161del results in the deletion of an amino acid in the FHA domain of the Chek2 protein at amino acid 161 (UniProt.org). E161del confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage in culture (PMID: 16982735).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E161del

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Transcript NM_007194.4
gDNA chr22:g.28725087_28725089delTCT
cDNA c.483_485delAGA
Protein p.E161delE
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.