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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

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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
NM_022965.3 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
XM_006713871.1 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38
XM_006713869.1 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
NM_022965 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
XM_006713871 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
XM_047449820.1 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
XM_011513420 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
XM_006713870.1 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
XM_006713868.1 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_011513420.2 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
XM_006713870.2 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
NM_000142.4 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_047449823.1 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
XM_006713873.1 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
NM_001354810.2 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_006713869 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_006713870 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_006713871.2 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_047449822.1 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_006713868.2 chr4:g.1801841C>G c.746C>G p.S249C RefSeq GRCh38/hg38

Filtering

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  • 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0
NCT05627063 Phase I ABSK121 A Study to Assess Safety, Tolerability, and Pharmacokinetics of ABSK121-NX in Patients With Advanced Solid Tumors Recruiting USA 1
NCT04917809 Phase II Erdafitinib A Study of Oral Erdafitinib in People With Recurrent Non-Invasive Bladder Cancer Recruiting USA 0
NCT05564416 Phase II Erdafitinib Atezolizumab + Erdafitinib Testing Anti-Cancer Drugs Erdafitinib With or Without Atezolizumab in Patients With Localized Bladder Cancer Not Able to Receive Cisplatin Chemotherapy, NERA Trial Withdrawn 0