FGFR3 R248C
Gene Variant Detail

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Gene FGFR3
Variant R248C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 R248C

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Transcript NM_000142.5
gDNA chr4:g.1801837C>T
cDNA c.742C>T
Protein p.R248C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801837C>T c.742C>T p.R248C 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 Protein Effect Treatment Approaches
FGFR3 R248C gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 R248C PIK3CA A1066V