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Gene CHEK2
Variant R148G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 R148G lies within the FHA domain of the Chek2 protein (UniProt.org). R148G results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), 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 R148G

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Transcript NM_007194.4
gDNA chr22:g.28725245T>C
cDNA c.442A>G
Protein p.R148G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_145862 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_007194 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28725338T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725245T>C c.442A>G p.R148G RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28725338T>C c.442A>G p.R148G RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725245T>C c.442A>G p.R148G 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