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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 |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804392G>A |
cDNA | c.1138G>A |
Protein | p.G380R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |