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Gene | CHEK2 |
Variant | G370E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CHEK2 G370E lies within the protein kinase domain of the Chek2 protein (UniProt.org). G370E results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065) and decreased Kap1 phosphorylation and Chek2 autophosphorylation in culture (PMID: 37449874). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 G370E |
Transcript | NM_007194.4 |
gDNA | chr22:g.28695860C>T |
cDNA | c.1109G>A |
Protein | p.G370E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |