Gene Variant Detail

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Gene FGFR3
Variant V555L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance Y

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Transcript NM_000142
gDNA chr4:g.1805767G>C
cDNA c.1663G>C
Protein p.V555L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 V555L unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 V555L Advanced Solid Tumor decreased response Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 V555L demonstrated reduced sensitivity to Infigratinib (BGJ398) in culture (PMID: 28034880). 28034880
FGFR3 V555L transitional cell carcinoma resistant Infigratinib Case Reports/Case Series Actionable In a clinical study, two patients with metastatic urothelial carcinoma progressed while being treated with Infigratinib (BGJ398) and subsequent cell-free DNA testing revealed FGFR3 V555L (also corresponds to V443L) (PMID: 29848605). 29848605