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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_011544449 | 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 |
| NM_023110.2 | 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_006716304 | 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_006716304.1 | 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_011544450 | 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_017013226.2 | 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_011544450.3 | chr8:g.38414198T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
| XM_017013221.1 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
| NM_023110.3 | chr8:g.38414790T>C | c.1966A>G | p.K656E | RefSeq | GRCh38/hg38 |
| NM_023110 | 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_006716304.2 | 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_006716303.3 | 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 |
| 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 |