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 | 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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.4 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|