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).
Associated Drug Resistance Y

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Transcript NM_000142
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_011513420 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 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_006713873 chr4:g.1805767G>A c.1663G>A p.V555M RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "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 Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555M were resistant to Infigratinib (BGJ398) 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 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 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
FGFR3 V555M Advanced Solid Tumor resistant AZD4547 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 Advanced Solid Tumor decreased response Debio 1347 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 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 Infigratinib (BGJ398) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) (PMID: 29848605). 29848605
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 FGFR3 L608V 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 Infigratinib (BGJ398) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) and FGFR3 L608V (also corresponds to L496V) (PMID: 29848605). 29848605
Molecular Profile Protein Effect Treatment Approaches
FGFR3 V555M gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 V555M FGFR3 L608V