Gene Variant Detail

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Gene FGFR2
Variant F276C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 F276C lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniPort.org). F276C results in increased Fgfr2 expression, altered cellular localization, and ligand-independent Erk phosphorylation in culture (PMID: 30761385).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 F276C

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Transcript NM_000141.4
gDNA chr10:g.121520091A>C
cDNA c.827T>G
Protein p.F276C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_000141 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_022970 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520091A>C c.827T>G p.F276C RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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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 F276C intrahepatic cholangiocarcinoma predicted - sensitive Infigratinib Case Reports/Case Series Actionable In a Phase II trial, Truseltiq (infigratinib) treatment resulted in partial response after 2 months of therapy and response was maintained for 4 months in a patient with advanced intrahepatic cholangiocarcinoma harboring a FGFR2 F276C mutation, which is consistent with inhibition of Erk signaling in cholangiocarcinoma cells expressing FGFR2 F274C in culture (PMID: 30761385; NCT02150967). 30761385
FGFR2 F276C intrahepatic cholangiocarcinoma predicted - sensitive Pazopanib Case Reports/Case Series Actionable In a clinical case study, Votrient (pazopanib) treatment resulted in a partial response that continued for 11 months after starting treatment in a patient with intrahepatic cholangiocarcinoma harboring FGFR2 F276C (PMID: 34480077). 34480077