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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 |
Transcript | NM_000142.5 |
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 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
XM_011513420.2 | 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_000142.5 | 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 |
XM_006713873 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
XM_047449823.1 | 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_001354809.2 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
XM_006713873.2 | 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_047449822.1 | chr4:g.1804392G>A | c.1138G>A | p.G380R | RefSeq | GRCh38/hg38 |
XM_011513422.2 | 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_011513422.1 | 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 |
NM_000142 | 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 |
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 |