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Gene FGFR2
Variant C342Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 C342Y lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342Y results in activation of Fgfr2 signaling as indicated by decreased differentiation and increased apoptosis in osteoblasts in culture and in transgenic animal models (PMID: 10851026, PMID: 15316116).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 C342Y

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Transcript NM_000141.5
gDNA chr10:g.121517378C>T
cDNA c.1025G>A
Protein p.C342Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38
NM_001320658 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38
NM_000141 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121517378C>T c.1025G>A p.C342Y RefSeq GRCh38/hg38

Filtering

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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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References