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Gene FGFR2
Variant H683L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 H683L (corresponds to H682L in the canonical isoform) lies within the protein kinase domain of the FGFR2 protein (UniProt.org). H683L has been associated with resistance to Fgfr inhibitors in the context of an FGFR2 fusion in culture (PMID: 31109923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 H683L

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Transcript NM_001144913.1
gDNA chr10:g.121487366T>A
cDNA c.2048A>T
Protein p.H683L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38
NM_022970 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121487366T>A c.2048A>T p.H683L 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 H683L 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 H683L had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 H683L 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 H683L had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 H683L 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 H683L were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). 31109923