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 C284Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 C284Y lies within the protein kinase domain of the Chek2 protein (UniProt.org). C284Y results in decreased Chek2 protein expression and phosphorylation in cultured cells and leads to a loss of growth inhibition in response to DNA damage (PMID: 33606978).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 C284Y

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.28703562C>T
cDNA c.851G>A
Protein p.C284Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28703562C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28703562C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28712009C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28703562C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28712009C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28711973C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28703562C>T c.851G>A p.C284Y RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28712009C>T c.851G>A p.C284Y 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References