Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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 and intermediate Chek2 autophosphorylation upon ionizing radiation in cultured cells (PMID: 34903604), and in the corresponding mouse variant, Y394C, results in decreased p53 phosphorylation 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

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.

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
XM_011529839.3 chr22:g.28696986T>C c.1169A>G p.Y390C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695800T>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
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries