Gene Variant Detail

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Gene FGFR3
Variant K650M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 K650M (also referred to as K652M from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650M confers a gain of function to the Fgfr3 protein as demonstrated by ligand-dependent autophosphorylation, activation of Mapk signaling (PMID: 9857065), activation of Stat1 in kinase assays (PMID: 19088846), a growth advantage 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 K650M

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Transcript NM_000142.4
gDNA chr4:g.1806163A>T
cDNA c.1949A>T
Protein p.K650M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713872 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_000142 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_011513422 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806163A>T c.1949A>T p.K650M 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 K650M Advanced Solid Tumor sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of transformed cells over expressing FGFR3 K650M in culture (PMID: 28978721). 28978721
FGFR3 K650M Advanced Solid Tumor resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 K650M were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR3 K650M Advanced Solid Tumor resistant AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 K650M were resistant to treatment with AZD4547 in culture (PMID: 34272467). 34272467