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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

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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
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
NM_145862.2 chr22:g.28703562C>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
NM_007194.4 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

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

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