CHEK2 Y220C
Gene Variant Detail

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Gene CHEK2
Variant Y220C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 Y220C lies within the protein kinase domain of the Chek2 protein (UniProt.org). Y220C results in intermediate Chek2 autophosphorylation and decreased Kap1 phosphorylation in CHEK2-null cells in culture (PMID: 37449874), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 Y220C

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Transcript NM_007194.4
gDNA chr22:g.28719419T>C
cDNA c.659A>G
Protein p.Y220C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28719419T>C c.659A>G p.Y220C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719419T>C c.659A>G p.Y220C RefSeq GRCh38/hg38

Filtering

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  • 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")

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