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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), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 N546D

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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_006716303.3 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
XM_006716310.3 chr8:g.38414853T>C c.1636A>G p.N546D RefSeq GRCh38/hg38
XM_017013221.1 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_006716311.1 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
XM_006716312.2 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_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_006716304.1 chr8:g.38417333T>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_006716311.1 chr8:g.38414853T>C c.1636A>G p.N546D RefSeq GRCh38/hg38
XM_017013221.2 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
NM_001174066.2 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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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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