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_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_047449824.1 | chr4:g.1806164G>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_047449822.1 | 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 | chr4:g.1806164G>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_011513422.1 | 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 |
NM_001354809.1 | chr4:g.1806161G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806164G>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_000142.4 | chr4:g.1806164G>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_047449823.1 | chr4:g.1806164G>C | c.1950G>C | p.K650N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 K650N | Advanced Solid Tumor | sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR3 K650N were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR3 K650N | Advanced Solid Tumor | sensitive | Erdafitinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, cells expressing FGFR3 K650N were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability, and Balversa (erdafitinib) treatment led to inhibition of tumor growth in a cell line xenograft model (PMID: 34272467). | 34272467 |
FGFR3 K650N | Advanced Solid Tumor | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR3 K650N were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR3 K650N | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR3 K650N were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR3 K650N | Advanced Solid Tumor | sensitive | E7090 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, cells expressing FGFR3 K650N were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability, and E7090 treatment led to inhibition of tumor growth in a cell line xenograft model (PMID: 34272467). | 34272467 |