FGFR1 N546K
Gene Variant Detail

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Gene FGFR1
Variant N546K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR1 N546K lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). N546K does not confer a growth advantage in a competition assay (PMID: 34272467), but results in increased Fgfr1 protein nuclear localization, Erk, Akt, and Stat3 phosphorylation (PMID: 35488346), and kinase activity, and is transforming in cultured cells (PMID: 26179511, PMID: 23817572, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 N546K

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Transcript NM_023110.3
gDNA chr8:g.38417331G>C
cDNA c.1638C>G
Protein p.N546K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.3 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
NM_001174066 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
NM_023110 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716310.3 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
NM_023105 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716312 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
NM_001174066.1 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_017013221 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716310 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716304 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716311 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38
XM_006716303 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38417331G>C c.1638C>G p.N546K RefSeq GRCh38/hg38
NM_023105.2 chr8:g.38414851A>C c.1638T>G p.N546K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR1 N546K gain of function FGFR Inhibitor (Pan) FGFR1 Inhibitor
ALK F1174L FGFR1 N546K