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Gene FGFR2
Variant C278F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 C278F lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C278F results in increased Fgfr2 dimerization and autophosphorylation, however, also leads to rapid Fgfr2 degradation (PMID: 16844695), impaired Erk and Tgf-beta signaling, and decreased cell viability in culture (PMID: 20004243), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 exon7 FGFR2 C278F

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Transcript NM_000141.5
gDNA chr10:g.121520085C>A
cDNA c.833G>T
Protein p.C278F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121515235C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_022970 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144914 chr10:g.121515235C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_000141 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520085C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121515235C>A c.833G>T p.C278F RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520085C>A c.833G>T p.C278F 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 )
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  • 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