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| Gene | PBRM1 |
| Variant | F1354C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PBRM1 F1354C does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). F1354C has been identified in sequencing studies (PMID: 32236518), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PBRM1 mutant PBRM1 F1354C |
| Transcript | NM_018313.5 |
| gDNA | chr3:g.52561838A>C |
| cDNA | c.4061T>G |
| Protein | p.F1354C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_018313 | chr3:g.52561838A>C | c.4061T>G | p.F1354C | RefSeq | GRCh38/hg38 |
| NM_018313.5 | chr3:g.52561838A>C | c.4061T>G | p.F1354C | RefSeq | GRCh38/hg38 |
| NM_018313.4 | chr3:g.52561838A>C | c.4061T>G | p.F1354C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|