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FGFR2 N550H - Gene Variant Detail

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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_001144919 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913 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_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_001144913.1 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
NM_022970.3 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_022970.4 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 fusion FGFR2 N550H intrahepatic cholangiocarcinoma decreased response Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 N550H intrahepatic cholangiocarcinoma decreased response Zoligratinib Preclinical - Cell culture Actionable In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 N550H intrahepatic cholangiocarcinoma sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). 31109923
FGFR2 rearrange FGFR2 N550D FGFR2 N550H FGFR2 N550K FGFR2 N550T FGFR2 V565I FGFR2 V565L cholangiocarcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a retrospective analysis, a cholangiocarcinoma patient harboring an FGFR2 rearrangement progressed on treatment with Pemazyre (pemigatinib) and was found to have acquired FGFR2 N550K, N550D, N550T, N550H, and V565I via cell-free DNA, and FGFR2 V565L via cell-free DNA and tissue biopsy (PMID: 39706336). 39706336