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Gene FGFR2
Variant Y376C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 Y376C (corresponds to Y375C in the canonical isoform) lies within the extracellular domain of the Fgfr2 protein (PMID: 17525745). Y376C results in constitutive dimerization through inter-molecular disulfide bonds (PMID: 17525745), 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 Y376C

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Transcript NM_022970.4
gDNA chr10:g.121515280T>C
cDNA c.1127A>G
Protein p.Y376C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913.1 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38
NM_022970 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38
NM_001144913 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121515280T>C c.1127A>G p.Y376C RefSeq GRCh38/hg38

Filtering

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  • 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 )
  • 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 Y376C intrahepatic cholangiocarcinoma predicted - sensitive Fexagratinib Case Reports/Case Series Actionable In a Phase II (MATCH) trial, AZD4547 treatment resulted in an overall response rate of 10.5% (2/19) in patients with advanced solid tumors harboring FGFR2 or 3 activating single nucleotide variants and a 6-month progression-free survival rate of 6%, including a partial response with 69% reduction in target lesion size and progression-free survival of 9.8 months in a patient with intrahepatic cholangiocarcinoma harboring FGFR2 Y376C (PMID: 32463741; NCT02465060). 32463741