Gene Variant Detail

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Gene FGFR3
Variant V555M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 V555M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555M results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226), and is associated with resistance to Fgfr inhibitors in culture (PMID: 28034880).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 V555M

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Transcript NM_000142.5
gDNA chr4:g.1805767G>A
cDNA c.1663G>A
Protein p.V555M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713871 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805761G>A c.1663G>A p.V555M RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 V555M Advanced Solid Tumor resistant Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555M were resistant to AZD4547 in culture (PMID: 28034880). 28034880
FGFR3 V555M transitional cell carcinoma resistant Infigratinib Case Reports/Case Series Actionable In a clinical study, a patient with metastatic urothelial carcinoma progressed while being treated with Truseltiq (infigratinib) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) (PMID: 29848605). 29848605
FGFR3 V555M Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555M were resistant to Truseltiq (infigratinib) in culture (PMID: 28034880). 28034880
FGFR3 V555M Advanced Solid Tumor sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited proliferation of transformed cells over expressing FGFR3 V555M in culture (PMID: 28034880). 28034880
FGFR3 V555M Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells over expressing FGFR3 V555M in culture (PMID: 28034880). 28034880
FGFR3 V555M Advanced Solid Tumor decreased response Zoligratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555M demonstrated reduced sensitivity to Debio 1347 in culture (PMID: 28034880). 28034880
FGFR3 V555M Advanced Solid Tumor sensitive LY2874455 Preclinical - Cell culture Actionable In a preclinical study, LY2874455 inhibited proliferation of transformed cells over expressing FGFR3 V555M in culture (PMID: 28034880). 28034880
FGFR3 V555M Advanced Solid Tumor resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, a cell line expressing FGFR3 V555M was resistant to Pemazyre (pemigatinib) in a kinase assay and in culture (PMID: 36698015). 36698015
FGFR3 V555M Advanced Solid Tumor decreased response FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555M demonstrated reduced sensitivity to FIIN-2 in culture (PMID: 28034880). 28034880