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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, Jul 2024).
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_022970 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_001144913 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
NM_022970.3 chr10:g.121487366T>A c.2048A>T p.H683L RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References