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| Gene | SMARCB1 |
| Variant | F279C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | SMARCB1 F279C lies within repeat 2 of the Smarcb1 protein (UniProt.org). F279C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
SMARCB1 mutant SMARCB1 F279C |
| Transcript | NM_003073.5 |
| gDNA | chr22:g.23825265T>G |
| cDNA | c.836T>G |
| Protein | p.F279C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_003073 | chr22:g.23825265T>G | c.836T>G | p.F279C | RefSeq | GRCh38/hg38 |
| NM_003073.4 | chr22:g.23825265T>G | c.836T>G | p.F279C | RefSeq | GRCh38/hg38 |
| NM_003073.5 | chr22:g.23825265T>G | c.836T>G | p.F279C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|