Gene Variant Detail

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Gene FGFR1
Variant G703S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 G703S lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G703S results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but transformation activity similar to wild-type Fgfr1 (PMID: 34272467), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 G703S

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Transcript NM_023110.3
gDNA chr8:g.38414231C>T
cDNA c.2107G>A
Protein p.G703S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.2 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38412512_38412514delGGGinsAGC c.2107_2109delGGGinsAGC p.G703S RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38412512_38412514delGGGinsAGC c.2107_2109delGGGinsAGC p.G703S RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38414231C>T c.2107G>A p.G703S RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38412512_38412514delGGGinsAGC c.2107_2109delGGGinsAGC p.G703S RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 G703S Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 G703S were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 G703S Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 G703S were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 G703S Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 G703S were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 G703S Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 G703S were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 G703S Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 G703S were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467