FGFR2 I548Wfs*8
Gene Variant Detail

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Gene FGFR2
Variant I548Wfs*8
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 I548Wfs*8 indicates a shift in the reading frame starting at amino acid 548 and terminating 8 residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). I548Wfs*8 results in increased proliferation and invasion in cultured cells (PMID: 37964396), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 I548Wfs*8

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Transcript NM_000141.5
gDNA chr10:g.121498525_121498526insTTCGGGGGGGGGGGGGGGCA
cDNA c.1641_1642insTGCCCCCCCCCCCCCCCGAA
Protein p.I548Wfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121498525_121498526insTTCGGGGGGGGGGGGGGGCA c.1641_1642insTGCCCCCCCCCCCCCCCGAA p.I548Wfs*8 RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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
FGFR2 I548Wfs*8 cholangiocarcinoma sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) decreased viability of a cholangiocarcinoma cell line expressing FGFR2 I548Wfs*8 in culture (PMID: 37964396). 37964396