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Gene CHEK2
Variant A392V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 A392V lies within the protein kinase domain of the Chek2 protein (UniProt.org). A392V results in decreased autophosphorylation of Chek2 (PMID: 28743916), leads to decreased Chek2 protein stability, and results in decreased Kap1 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 A392V

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Transcript NM_007194.4
gDNA chr22:g.28695794G>A
cDNA c.1175C>T
Protein p.A392V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28695794G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
XM_006724114 chr22:g.28687907G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28694117G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28694117G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28687907G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695794G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695794G>A c.1175C>T p.A392V RefSeq GRCh38/hg38
XM_011529843 chr22:g.28694117G>A c.1175C>T p.A392V 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