Gene Variant Detail

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Gene CHEK2
Variant L183S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 L183S does not lie within any known functional domains of the Chek2 protein (UniProt.org). L183S 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 L183S

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Transcript NM_007194.4
gDNA chr22:g.28725021A>G
cDNA c.548T>C
Protein p.L183S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529840 chr22:g.28725298_28725299delAGinsGA c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_006724114 chr22:g.28699851_28699852delAGinsCT c.547_548delCTinsAG p.L183S RefSeq GRCh38/hg38
XM_011529844 chr22:g.28725298_28725299delAGinsGA c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_011529839 chr22:g.28725298_28725299delAGinsGA c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
NM_145862 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38
XM_006724114.3 chr22:g.28699851_28699852delCTinsAG c.547_548delCTinsAG p.L183S RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38
NM_007194 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725298_28725299delCTinsTC c.547_548delCTinsTC p.L183S RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725021A>G c.548T>C p.L183S RefSeq GRCh38/hg38

Filtering

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  • 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries