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Gene FGFR3
Variant A391E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 A391E (also referred to as A393E from the FGFR3IIIb isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). A391E results in increased dimerization, ligand-independent activation of Fgfr3 in cell culture (PMID: 21536014, PMID: 23437153), increased proliferation in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 A391E

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Transcript NM_000142.5
gDNA chr4:g.1804426C>A
cDNA c.1172C>A
Protein p.A391E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354810.2 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
NM_000142 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804426C>A c.1172C>A p.A391E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 A391E bladder urothelial carcinoma predicted - sensitive AZD4547 Case Reports/Case Series Actionable In a Phase II (MATCH) trial, AZD4547 treatment resulted in an overall response rate of 10.5% (2/19) in patients with advanced solid tumors harboring FGFR2 or 3 single nucleotide variants and a 6-month progression-free survival (PFS) rate of 6%, with stable disease in 2 of 7 patients with FGFR3 activating mutations, and a partial response in a patient with urinary bladder transitional cell carcinoma harboring FGFR3 A391E (reported as A393E) (PMID: 32463741; NCT02465060). 32463741
FGFR3 A391E Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 A391E were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 A391E Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 A391E were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 A391E Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 A391E were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 A391E Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 A391E were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 A391E Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 A391E were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467