CHEK2 S357F
Gene Variant Detail

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Gene CHEK2
Variant S357F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 S357F lies within the protein kinase domain of the Chek2 protein (UniProt.org). S357F results in Kap1 and Chek2 phosphorylation similar to wild-type in culture (PMID: 37449874), but a loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 S357F

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Transcript NM_007194.4
gDNA chr22:g.28696926G>A
cDNA c.1070C>T
Protein p.S357F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28696926G>A c.1070C>T p.S357F RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28696926G>A c.1070C>T p.S357F RefSeq GRCh38/hg38
NM_007194 chr22:g.28696926G>A c.1070C>T p.S357F 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References