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Gene | FGFR3 |
Variant | K650T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 K650T (also referred to as K652T from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650T 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 K650T |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806163A>C |
cDNA | c.1949A>C |
Protein | p.K650T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047449823.1 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1806160A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806163A>C | c.1949A>C | p.K650T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT04972253 | Phase I | Infigratinib | Phase I BLASST-3 Trial ((BLASST)-3) | Withdrawn | 0 |