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Gene FGFR2
Variant R203C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 R203C lies within the Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). R203C 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 confers a gain of function to the Fgfr2 protein, as demonstrated by increased autophosphorylation, increased phosphorylation of FRS2, and increased activation of Mek1/2 and Stat3 upon FGF1 stimulation in cell culture (PMID: 23527311).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 R203C

FGFR2 mutant FGFR2 exon5 FGFR2 R203C

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Transcript NM_000141.5
gDNA chr10:g.121551307G>A
cDNA c.607C>T
Protein p.R203C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144917 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144913 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144914 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_022970 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_000141 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001320658 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121551307G>A c.607C>T p.R203C RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries