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Gene FGFR2
Variant N549H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N549H lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549H demonstrates resistance to FGFR inhibitors in the context of FGFR2-CLIP1 in culture (PMID: 31371345), and confers a gain of function to the Fgfr2 protein as indicated by disengagement of autoinhibitory mechanisms thereby resulting in constitutive activation and downstream pathway activation (PMID: 17525745, PMID: 17803937), elevated kinase activity in substrate phosphorylation assays (PMID: 28166054), a growth advantage relative to wild-type Fgfr2 in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N549H

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Transcript NM_000141.5
gDNA chr10:g.121498522T>G
cDNA c.1645A>C
Protein p.N549H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144919.1 chr10:g.121488068T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498522T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_023029 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488068T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_001144915 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488068T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_000141 chr10:g.121498522T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498522T>G c.1645A>C p.N549H RefSeq GRCh38/hg38
NM_001144915.1 chr10:g.121488065T>G c.1645A>C p.N549H RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
FGFR2 N549H gain of function FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 C382R FGFR2 N549D FGFR2 N549H FGFR2 N549K FGFR2 V564L