Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR3 |
Variant | G370C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 G370C lies within the juxtamembrane region of the Fgfr3 protein (PMID: 12009017). G370C confers a gain of function to the Fgfr3 protein as demonstrated by increased Fgfr3 phosphorylation, constitutive activation of the Mapk signaling pathway (PMID: 12009017), a growth advantage relative to wild-type Fgfr3 in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 G370C |
Transcript | NM_000142.5 |
gDNA | chr4:g.1804362G>T |
cDNA | c.1108G>T |
Protein | p.G370C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |