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| Gene | CHEK2 |
| Variant | L226F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CHEK2 L226F lies within the protein kinase domain of the Chek2 protein (UniProt.org). L226F has been identified in sequencing studies (PMID: 27442865, PMID: 35734982, PMID: 36479692), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
CHEK2 mutant CHEK2 L226F |
| Transcript | NM_007194.4 |
| gDNA | chr22:g.28719402G>A |
| cDNA | c.676C>T |
| Protein | p.L226F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_007194.3 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_001005735 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_047441105.1 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_001005735.1 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_024452148.1 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_001005735.2 | chr22:g.28725020C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_024452149.2 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_006724114 | chr22:g.28695844C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_007194 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_024452149.1 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_006724114.3 | chr22:g.28695844C>A | c.678G>T | p.L226F | RefSeq | GRCh38/hg38 |
| NM_145862 | chr22:g.28719402G>A | c.676C>T | p.L226F | RefSeq | GRCh38/hg38 |
| XM_024452148.2 | chr22:g.28719430T>A | c.678A>T | p.L226F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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