Gene Variant Detail

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Gene FGFR3
Variant R248_S249insC
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 R248_S249insC results in the insertion of a cystine (C) in the extracellular domain of the Fgfr3 protein between amino acids 248 and 249 (UniProt.org). R248_S249insC results in a growth advantage in a competition assay and increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 R248_S249insC

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Transcript NM_000142.5
gDNA chr4:g.1801840_1801841insGTT
cDNA c.745_746insGTT
Protein p.R248_S249insC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713869.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801840_1801841insGTT c.745_746insGTT p.R248_S249insC RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 R248_S249insC Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 R248_S249insC were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR3 R248_S249insC Advanced Solid Tumor predicted - resistant E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 R248_S249insC were resistant to treatment with E7090 in culture (PMID: 34272467). 34272467