FGFR3 K650E
Gene Variant Detail

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Gene FGFR3
Variant K650E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 K650E (also referred to as K652E from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650E confers a gain of function to the Fgfr3 protein as demonstrated by constitutive activation (PMID: 11055896), a growth advantage in a competition assay (PMID: 34272467), and transformation of cells in culture (PMID: 11157491, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 K650E

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Transcript NM_000142.5
gDNA chr4:g.1806162A>G
cDNA c.1948A>G
Protein p.K650E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_011513422 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_006713872 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1806159A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806162A>G c.1948A>G p.K650E RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04424966 Phase 0 Infigratinib Infigratinib in Recurrent High-Grade Glioma Patients Terminated USA 0
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0