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Gene FGFR2
Variant N550K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550K (corresponds to N549K in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550K results in increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550K

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Transcript NM_022970.4
gDNA chr10:g.121498520A>C
cDNA c.1650T>G
Protein p.N550K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144919.1 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488063A>C c.1650T>G p.N550K 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
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
FGFR2 N550K gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 K310R FGFR2 N550K
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs
FGFR2 C382R FGFR2 N550K
FGFR2 C383R FGFR2 N550K
FGFR2 fusion FGFR2 N550K
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K