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| Gene | CHEK2 |
| Variant | I160M |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CHEK2 I160M lies within the FHA domain of the Chek2 protein (UniProt.org). I160M results in decreased Chek2-mediated DNA damage response in yeast (PMID: 22419737) but Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type Chek2 in CHEK2-null cells in culture (PMID: 37449874), and Chek2 expression and phosphorylation similar to wild-type in culture (PMID: 36468172), and therefore, its effect on Chek2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
CHEK2 mutant CHEK2 I160M |
| Transcript | NM_007194.4 |
| gDNA | chr22:g.28725089T>C |
| cDNA | c.480A>G |
| Protein | p.I160M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_007194.3 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| NM_007194 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| NM_145862 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28725089T>C | c.480A>G | p.I160M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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