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Gene FGFR1
Variant K656E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR1 K656E lies within the cytoplasmic 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

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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 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_017013221.1 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_006716304.1 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_017013226.1 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
NM_023110.3 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_006716303.3 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_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
XM_011544450.2 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
XM_006716303.4 chr8:g.38414790T>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_017013221 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_011544449.1 chr8:g.38414198T>C c.1966A>G p.K656E RefSeq GRCh38/hg38
XM_006716303 chr8:g.38414790T>C c.1966A>G p.K656E RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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