FGFR2 Y375C
Gene Variant Detail

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Gene FGFR2
Variant Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 Y375C lies within the extracellular juxtamembrane domain of the Fgfr2 protein (PMID: 17525745). Y375C results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but constitutive phosphorylation of Fgfr2 in cell culture, activation of Mapk p38 signaling, and abnormal proliferation and differentiation in the skin and skull of transgenic mouse models (PMID: 22585574).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 Y375C

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Transcript NM_000141.5
gDNA chr10:g.121515280T>C
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515280T>C c.1124A>G p.Y375C 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0