FGFR1 R250W
Gene Variant Detail

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Gene FGFR1
Variant R250W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R250W lies within the D2-D3 linker region of the Fgfr1 protein (PMID: 23276709). R250W results in similar cell proliferation and viability levels to wild-type Fgfr1 in two different cell lines in culture in one study (PMID: 29533785), increased proliferation and anchorage-independent colony formation in another study (PMID: 40526877), decreased proliferation relative to wild-type Fgfr1 in a competition assay, and transformation activity similar to wild-type Fgfr1 in another study (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R250W

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Transcript NM_023110.3
gDNA chr8:g.38424697G>A
cDNA c.748C>T
Protein p.R250W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013221 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_017013222 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716303 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_001174063 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_006716304 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
NM_023110 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38

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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