Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
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 | FGFR1 |
Variant | K656E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR1 K656E lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656E does not confer a growth advantage in a competition assay but confers a gain of function to the Fgfr1 protein as demonstrated by constitutive activation of MAPK signaling (PMID: 23817572), and is transforming in cultured cells (PMID: 23817572, PMID: 34272467). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 K656E |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414790T>C |
cDNA | c.1966A>G |
Protein | p.K656E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011544450.2 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544450 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544449 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_047421575.1 | chr8:g.38415857T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544449.1 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544449.2 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013226.1 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013226.2 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544450.3 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013226 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
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 |