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Gene | FGFR3 |
Variant | G382D |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR3 G382D lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). G382D is not transforming but results in constitutive activation of Fgfr3 and downstream signaling in culture (PMID: 11429702), and therefore, is predicted to lead to a gain of Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 G382D |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804399G>A |
cDNA | c.1145G>A |
Protein | p.G382D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |