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Gene | FGFR3 |
Variant | F384L |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 F384L lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). F384L results in proliferation similar to wild-type Fgfr3 in a competition assay, transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), does not result in activation of Fgfr3, and is not transforming in cell culture (PMID: 11157491, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 F384L |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804404T>C |
cDNA | c.1150T>C |
Protein | p.F384L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |