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Gene | FGFR3 |
Variant | Y373C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 Y373C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373C confers a gain of function to the Fgfr3 protein resulting in increased proliferation relative to wild-type Fgfr3 in a competition assay (PMID: 34272467), constitutive activation, downstream signaling (PMID: 11429702, PMID: 11157491), and transformation of cultured cells (PMID: 11429702, PMID: 11157491, PMID: 34272467). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 Y373C |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804372A>G |
cDNA | c.1118A>G |
Protein | p.Y373C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |