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@jax.org
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 |
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_000142.5 | 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 |
NM_001354809.2 | chr4:g.1806159A>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_011513422.1 | chr4:g.1806159A>G | c.1948A>G | p.K650E | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1806159A>G | c.1948A>G | p.K650E | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806162A>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 |
NM_001354810.1 | 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_047449824.1 | 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 |
XM_006713873.1 | chr4:g.1806162A>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_047449823.1 | chr4:g.1806162A>G | c.1948A>G | p.K650E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 K650E FGFR3 over exp HRAS K117E | myeloid neoplasm | sensitive | AZ8010 | Preclinical | Actionable | In a preclinical study, AZ8010 inhibited Fgfr3 signaling and decreased proliferation of myeloma cells with HRAS K117E and overexpression of FGFR3 K650E in culture (PMID: 22869148). | 22869148 |
FGFR3 K650E FGFR3 over exp HRAS K117E | multiple myeloma | sensitive | PD173074 | Preclinical - Cell culture | Actionable | In a preclinical study, PD173074 inhibited Fgfr3 signaling, induced cell cycle arrest, and decreased proliferation of multiple myeloma cells harboring HRAS K117E and overexpression of FGFR3 K650E in culture (PMID: 22869148). | 22869148 |
FGFR3 rearrange FGFR3 K650E | multiple myeloma | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) treatment led to inhibition of cell proliferation in a multiple myeloma cell line harboring an FGFR3 rearrangement and FGFR3 K650E in culture (PMID: 32973082). | 32973082 |