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| Gene | FGFR1 |
| Variant | N546D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR1 N546D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). N546D has been identified in the scientific literature (PMID: 32622884, PMID: 29728520, PMID: 40016412), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, May 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR1 mutant FGFR1 N546D |
| Transcript | NM_023110.3 |
| gDNA | chr8:g.38417333T>C |
| cDNA | c.1636A>G |
| Protein | p.N546D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017013221.1 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_017013221.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716310.3 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_023105.3 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716303.4 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716310.4 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716303.3 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716304.1 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_001174066.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716304.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_023110.2 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716311.1 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716312.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| XM_006716312.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38417333T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_023105.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| NM_001174066.2 | chr8:g.38414853T>C | c.1636A>G | p.N546D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR1 N546D | intrahepatic cholangiocarcinoma | predicted - sensitive | Futibatinib | Case Reports/Case Series | Actionable | In a Phase I trial (FOENIX-101), Lytgobi (futibatinib) treatment resulted in a partial response in a patient with glioblastoma harboring FGFR1 N546D (PMID: 32622884; NCT02052778). | 32622884 |