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Gene FGFR2
Variant N550H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550H (corresponds to N549H in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550H results in increased Fgfr2 kinase activity, as well as increased Fgfr2 phosphorylation and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550H

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Transcript NM_022970.4
gDNA chr10:g.121498522T>G
cDNA c.1648A>C
Protein p.N550H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488065T>G c.1648A>C p.N550H 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 )
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Molecular Profile Protein Effect Treatment Approaches
FGFR2 N550H gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 fusion FGFR2 N550H