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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_006716304.2 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38414790T>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_017013221.1 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544449 | chr8:g.38414198T>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_047421575.1 | chr8:g.38415857T>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_017013226 | chr8:g.38414198T>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_011544450.2 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38414790T>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_017013226.2 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544450 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_011544449.1 | 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_006716304.1 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
XM_017013226.1 | 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 |
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 |