Gene Variant Detail

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Gene FGFR3
Variant N540K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 N540K lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540K results in increased Fgfr3 autophosphorylation and substrate phosphorylation, and is transforming in cell culture (PMID: 26992226).
Associated Drug Resistance Y

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Transcript NM_000142
gDNA chr4:g.1805644C>G
cDNA c.1620C>G
Protein p.N540K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873 chr4:g.1805644C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
XM_006713870 chr4:g.1805635C>G c.1620C>G p.N540K RefSeq GRCh38/hg38
NM_000142 chr4:g.1805644C>G c.1620C>G p.N540K 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 N540K gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 N540K Advanced Solid Tumor resistant AZD4547 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K were reistant to growth inhibition by AZD4547 in culture (PMID: 26992226). 26992226
FGFR3 N540K Advanced Solid Tumor decreased response LY2874455 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to LY2874455 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited proliferation of transformed cells over expressing FGFR3 N540K in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor resistant BGJ398 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K were resistant to BGJ398 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor decreased response Debio 1347 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to Debio 1347 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor decreased response FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 N540K demonstrated reduced sensitivity to FIIN-2 in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells over expressing FGFR3 N540K in culture (PMID: 28034880). 28034880
FGFR3 N540K Advanced Solid Tumor sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinicl study, Balversa (erdafitinib) inhibited proliferation of transformed cells expressing FGFR3 N540K in culture (PMID: 26992226). 26992226