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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_000142.4
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_006713868.1 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_006713869.1 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_006713871 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
XM_006713873 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
XM_006713868 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
XM_011513422 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_006713870 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
NM_001163213.1 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
XM_006713869 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_011513422.1 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
NM_022965.3 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

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04917809 Phase II Erdafitinib A Study of 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 Recruiting CAN 0
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0