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 | K650Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 K650Q (also referred to as K652Q from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650Q confers a gain of function to the Fgfr3 protein as demonstrated by increased autophosphorylation in culture (PMID: 11055896), a growth advantage 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 K650Q |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806162A>C |
cDNA | c.1948A>C |
Protein | p.K650Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |