CHEK2 Y390C
Gene Variant Detail

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Gene CHEK2
Variant Y390C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 Y390C lies within the protein kinase domain of the Chek2 protein (UniProt.org). Y390C confers a loss of function to the Chek2 protein as demonstrated by reduced Kap1 phosphorylation (PMID: 34903604, PMID: 37449874), intermediate Chek2 autophosphorylation at T383 upon ionizing radiation in cultured cells (PMID: 34903604), and decreased Chek2 phosphorylation in CHEK2-null cells (PMID: 37449874), and the corresponding mouse variant (Y394C) results in resistance to DNA damage, decreased p53 phosphorylation and downstream activation upon DNA damage, and reduced Cdc25a phosphorylation in cultured cells (PMID: 25619829).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 Y390C

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Transcript NM_007194.4
gDNA chr22:g.28695800T>C
cDNA c.1169A>G
Protein p.Y390C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047441107.1 chr22:g.28695758T>C c.1169A>G p.Y390C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695800T>C c.1169A>G p.Y390C RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28696986T>C c.1169A>G p.Y390C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695800T>C c.1169A>G p.Y390C 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