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Gene CHEK2
Variant G229S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G229S lies within the protein kinase domain of the Chek2 protein (UniProt.org). G229S results in reduced phosphorylation of Chek2 and Kap1 upon ionizing radiation in culture (PMID: 34903604), 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 G229S

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Transcript NM_007194.4
gDNA chr22:g.28712016C>T
cDNA c.685G>A
Protein p.G229S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529839.3 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725041_28725043delGGGinsAGC c.685_687delGGGinsAGC p.G229S RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28712016C>T c.685G>A p.G229S RefSeq GRCh38/hg38

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