FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Bladder Neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005695
Disease:
Bladder Neoplasm 		0.020 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452 2019
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005695
Disease:
Bladder Neoplasm 		0.020 GeneticVariation BEFREE First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions. 26244699 2015
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005695
Disease:
Bladder Neoplasm 		0.020 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
dbSNP: rs28931615
rs28931615
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005695
Disease:
Bladder Neoplasm 		0.020 GeneticVariation BEFREE An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer. 16384584 2006