CHEK2 I189V
Gene Variant Detail

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Gene CHEK2
Variant I189V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 I189V does not lie within any known functional domains of the Chek2 protein (UniProt.org). I189V results in Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type in culture (PMID: 37449874), but a loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), 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 I189V

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Transcript NM_007194.4
gDNA chr22:g.28725004T>C
cDNA c.565A>G
Protein p.I189V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001005735.2 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
XM_011529841 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725004T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_007194 chr22:g.28725004T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725004T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_145862 chr22:g.28725004T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_001005735 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28725251T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725004T>C c.565A>G p.I189V RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725004T>C c.565A>G p.I189V 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References