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| Gene | CHEK2 |
| Variant | A237T |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | CHEK2 A237T lies within the protein kinase domain of the Chek2 protein (UniProt.org). A237T leads to a loss of growth inhibition in response to DNA damage (PMID: 33606978), 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 A237T |
| Transcript | NM_007194.4 |
| gDNA | chr22:g.28711992C>T |
| cDNA | c.709G>A |
| Protein | p.A237T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_145862.2 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
| XM_011529842.3 | chr22:g.28703533C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
| NM_007194.3 | chr22:g.28711992C>T | c.709G>A | p.A237T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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