Gene Variant Detail

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

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Transcript NM_022970
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_001144914 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N550H Advanced Solid Tumor decreased response Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550H demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 N550H Advanced Solid Tumor resistant PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550H were resistant to treatment with PD173074 (PMID: 23908597). 23908597
FGFR2 N550H Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 N550H (PMID: 23908597). 23908597
FGFR2-INA FGFR2 H683L FGFR2 L618V FGFR2 N550H FGFR2 N550T FGFR2 M538I intrahepatic cholangiocarcinoma resistant Debio 1347 Case Reports/Case Series Actionable In a clinical case study, a patient with intrahepatic cholangiocarcinoma harboring an FGFR2-INA fusion developed progressive disease after initial response to Debio 1347 for 11.4 months and FGFR2 H683L, L618V, N550H, N550T, M538I mutations were identified post-progression (PMID: 31109923). 31109923
FGFR2-INA FGFR2 H683L FGFR2 L618V FGFR2 N550H FGFR2 N550T FGFR2 M538I intrahepatic cholangiocarcinoma sensitive TAS-120 Case Reports/Case Series Actionable In a Phase I trial, a patient with intrahepatic cholangiocarcinoma, harboring an FGFR2-INA fusion with FGFR2 H683L, L618V, N550H, N550T, M538I mutations, responded to TAS-120 for 5.1 months before progressing due to acquired FGFR2 V565L and E566A mutations, detected in cell-free DNA (PMID: 31109923; NCT02052778). 31109923
FGFR2-ZMYM4 FGFR2 V565F FGFR2 K660M FGFR2 E566A FGFR2 N550H FGFR2 N550K intrahepatic cholangiocarcinoma resistant BGJ398 Case Reports/Case Series Actionable In a clinical case study, a patient with intrahepatic cholangiocarcinoma harboring an FGFR2-ZMYM4 fusion developed progressive disease after initial response to Infigratinib (BGJ398) for 5.6 months and FGFR2 V565F, K660M E566A, N550H, and N550K mutations were identified in the post-progression cell-free DNA (PMID: 31109923). 31109923
FGFR2-ZMYM4 FGFR2 V565F FGFR2 K660M FGFR2 E566A FGFR2 N550H FGFR2 N550K intrahepatic cholangiocarcinoma sensitive TAS-120 Case Reports/Case Series Actionable In a Phase I trial, a patient with intrahepatic cholangiocarcinoma, harboring an FGFR2-ZMYM4 fusion with FGFR2 V565F, K660M E566A, N550H, and N550K mutations, responded to TAS-120 for 7.2 months before progressing due to an acquired FGFR2 V563L mutation, detected in cell-free DNA (PMID: 31109923; NCT02052778). 31109923
FGFR2 fusion FGFR2 N550H intrahepatic cholangiocarcinoma decreased response BGJ398 Preclinical - Cell culture Actionable In a preclinical study, Infigratinib (BGJ398) 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 TAS-120 Preclinical - Cell culture Actionable In a preclinical study, TAS-120 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 fusion FGFR2 N550H intrahepatic cholangiocarcinoma decreased response Debio 1347 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