CHEK2 L174V
Gene Variant Detail

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Gene CHEK2
Variant L174V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 L174V lies within the FHA domain of the Chek2 protein (UniProt.org). L174V results in phosphorylation of Kap1 at serine (S)-473 to similar levels as wild-type Chek2 in in vitro assays (PMID: 31050813) and in culture (PMID: 37449874) and autophosphorylation similar to wild-type in culture (PMID: 37449874), but results in a loss of Kap1 phosphorylation in a cell culture system that preserves posttranslational modifications of Chek2 (PMID: 31050813), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 L174V

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Transcript NM_007194.4
gDNA chr22:g.28725049G>C
cDNA c.520C>G
Protein p.L174V
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.