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Gene FGFR3
Variant G380R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 G380R lies within the transmembrane domain of the Fgfr3 protein (PMID: 20624921). G380R results in increased ligand-independent phosphorylation of Fgfr3 and enhanced ligand-dependent activation of downstream signaling, but is not transforming in cell culture (PMID: 20624921, PMID: 9136983, PMID: 10611230).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G380R

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Transcript NM_000142.5
gDNA chr4:g.1804392G>A
cDNA c.1138G>A
Protein p.G380R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513420 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_000142 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804392G>A c.1138G>A p.G380R 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 Protein Effect Treatment Approaches
FGFR3 G380R gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor