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Gene CHEK2
Variant Y390S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 Y390S lies within the protein kinase domain of the Chek2 protein (UniProt.org). Y390S results in a loss of Chek2 kinase activity in an in vitro kinase assay (PMID: 22114986) and results in reduced Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 Y390S

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Transcript NM_007194.4
gDNA chr22:g.28695800T>G
cDNA c.1169A>C
Protein p.Y390S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529839.2 chr22:g.28696986T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28696986T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
NM_007194 chr22:g.28695800T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695800T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695800T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28695758T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38
XM_011529839 chr22:g.28696986T>G c.1169A>C p.Y390S RefSeq GRCh38/hg38

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  • 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