Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene FGFR3
Variant S249C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 S249C lies within the linker region between IgD2 and IgD3 of the Fgfr3 protein (PMID: 19381019). S249C results in stabilized homodimer formation and constitutive Fgfr3 phosphorylation in vitro (PMID: 17384684), ligand-independent cell proliferation in culture (PMID: 19381019, PMID: 29533785), increased Akt signaling (PMID: 31316618), a growth advantage relative to wild-type Fgfr3 in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 S249C

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.

Transcript NM_000142.5
gDNA chr4:g.1801841C>G
cDNA c.746C>G
Protein p.S249C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713869.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_000142 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_022965 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801841C>G c.746C>G p.S249C 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 S249C gain of function FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 S249C FGFR3 over exp
FGFR3 S249C PIK3CA E545K
FGFR3 S249C PIK3CA E545A
FGFR3 S249C FGFR3 N540K
FGFR3 S249C FGFR3 N540K PIK3CA E545K
FGFR3 S249C FGFR3 V553L
FGFR3 S249C FGFR3 V555L
FGFR3 S249C FGFR3 V553M
FGFR3 S249C FGFR3 amp PTEN C136fs
FGFR3 S249C FGFR3 V553M FGFR3 V555L
FGFR3 S249C FGFR3 M528I FGFR3 V553M
FGFR3 S249C FGFR3 N540S
FGFR2 R255W FGFR3 S249C FGFR3 V553M FGFR3 K650M