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Gene | FGFR3 |
Variant | G346E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 G346E lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). G346E results in reduced dimer formation, but demonstrates similar Fgfr3 autophosphorylation to wild-type in the absence of ligand in culture (PMID: 22529939), proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 G346E |
Transcript | NM_000142.5 |
gDNA | chr4:g.1803798G>A |
cDNA | c.1037G>A |
Protein | p.G346E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |