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Gene FGFR1
Variant R250Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FGFR1 R250Q lies within the linker D2-D3 region of the Fgfr1 protein (PMID: 23276709). R250Q confers a loss of function to the Fgfr1, as demonstrated by disrupted ligand binding (PMID: 23276709, PMID: 19820032).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 inact mut FGFR1 R250Q

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Transcript NM_023110.3
gDNA chr8:g.38424696C>T
cDNA c.749G>A
Protein p.R250Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001174063 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_017013221 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
NM_023110 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_017013222 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716303 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38
XM_006716304 chr8:g.38424696C>T c.749G>A p.R250Q RefSeq GRCh38/hg38

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  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References