CHEK2 A247D
Gene Variant Detail

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Gene CHEK2
Variant A247D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 A247D lies within the protein kinase domain of the Chek2 protein (UniProt.org). A247D confers a loss of function to Chek2 as demonstrated by decreased Chek2 protein expression and instability compared to wild-type Chek2 (PMID: 11719428), decreased Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and decreased Kap1 phosphorylation and Chek2 autophosphorylation in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 A247D

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Transcript NM_007194.4
gDNA chr22:g.28711961G>T
cDNA c.740C>A
Protein p.A247D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452149.1 chr22:g.28711991G>T c.740C>A p.A247D RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38
NM_145862 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28711991G>T c.740C>A p.A247D RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28711991G>T c.740C>A p.A247D RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38
NM_007194 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28711991G>T c.740C>A p.A247D RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28695749G>T c.740C>A p.A247D RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28711918_28711919delCAinsAC c.740_741delCAinsAC p.A247D RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711961G>T c.740C>A p.A247D RefSeq GRCh38/hg38

Filtering

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