FGFR2 H683L
Gene Variant Detail

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Gene FGFR2
Variant H683L
Impact List missense
Protein Effect gain of function - predicted
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 (reported as H682L) results in growth factor-independent growth in a high-throughput cell culture assay (PMID: 41361008), and has been associated with resistance to Fgfr inhibitors in the context of an FGFR2 fusion in culture (PMID: 31109923), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut 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 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_022970.4 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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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
FGFR2 H683L gain of function - predicted
FGFR2 fusion FGFR2 H683L