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Gene | FGFR3 |
Variant | K650N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 K650N lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650N confers a gain of function to the Fgfr3 protein as demonstrated by constitutive activation (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 K650N |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806164G>C |
cDNA | c.1950G>C |
Protein | p.K650N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |