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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 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_007194 | chr22:g.28695860C>T | c.1109G>A | p.G370E | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28695860C>T | c.1109G>A | p.G370E | RefSeq | GRCh38/hg38 |
| NM_007194.3 | chr22:g.28695860C>T | c.1109G>A | p.G370E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|