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
NM_023110 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_023110.2 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
XM_006716303 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
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
NM_001174063.1 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
NM_023110.3 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_017013221.2 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
XM_017013221 chr8:g.38424697G>A c.748C>T p.R250W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 R250W Advanced Solid Tumor sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with Fexagratinib (AZD4547) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, Fexagratinib (AZD4547) inhibited viability of cells expressing FGFR1 R250W in culture (PMID: 40526877). 40526877
FGFR1 R250W Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, Balversa (erdafitinib) inhibited viability of cells expressing FGFR1 R250W in culture (PMID: 40526877). 40526877
FGFR1 R250W Advanced Solid Tumor sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR1 R250W in culture (PMID: 40526877). 40526877
FGFR1 R250W Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 R250W were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 R250W Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR1 R250W in culture (PMID: 40526877). 40526877