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Gene CHEK2
Variant R117A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R117A lies within the FHA domain of the Chek2 protein (UniProt.org). R117A confers a loss of function to the Chek 2 protein as demonstrated by failure to bind several proteins, including BRCA1 in pull-down assays (PMID: 12049740).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R117A

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Transcript NM_007194.4
gDNA chr22:g.28725337_28725338delAGinsGC
cDNA c.349_350delAGinsGC
Protein p.R117A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_007194 chr22:g.28725337_28725338delCTinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_145862 chr22:g.28725337_28725338delCTinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725337_28725338delAGinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725337_28725338delCTinsGC c.349_350delAGinsGC p.R117A RefSeq GRCh38/hg38

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