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Gene | FGFR3 |
Variant | G382R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 G382R lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G382R results in increased Fgfr3 protein dimerization and constitutive activation (PMID: 16841094), and has also been shown to inhibit receptor internalization (PMID: 17172848). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 G382R |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804398G>C |
cDNA | c.1144G>C |
Protein | p.G382R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |