Gene Variant Detail

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Gene FGFR3
Variant G380R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 G380R lies within the transmembrane domain of the Fgfr3 protein (PMID: 20624921). G380R results in increased ligand-independent phosphorylation of Fgfr3 and enhanced ligand-dependent activation of downstream signaling, but is not transforming in cell culture (PMID: 20624921, PMID: 9136983, PMID: 10611230).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G380R

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Transcript NM_000142.4
gDNA chr4:g.1804392G>A
cDNA c.1138G>A
Protein p.G380R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_000142 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804392G>A c.1138G>A p.G380R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 G380R Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G380R were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 G380R Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G380R were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 G380R Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G380R were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 G380R Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G380R were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467