CHEK2 P85L
Gene Variant Detail

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Gene CHEK2
Variant P85L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 P85L does not lie within any known functional domains of the Chek2 protein (UniProt.org). P85L results in decreased Chek2 kinase activity in an in vitro kinase assay (PMID: 17721994) but DNA repair activity similar to wild-type Chek2 in a yeast assay (PMID: 22419737), complements Rad53 loss similar to wild-type in a yeast assay (PMID: 15649950), and results in Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type in CHEK2-null cells in culture (PMID: 37449874), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 P85L

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Transcript NM_007194.4
gDNA chr22:g.28734468G>A
cDNA c.254C>T
Protein p.P85L
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.