Gene: FGFR3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
0.720 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: rs121913483
rs121913483
FGFR3
G 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913483
rs121913483
FGFR3
G 0.720 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019

2009
dbSNP: rs121913483
rs121913483
FGFR3
0.720 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007
dbSNP: rs121913479
rs121913479
FGFR3
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913480
rs121913480
FGFR3
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913484
rs121913484
FGFR3
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs78311289
rs78311289
FGFR3
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 GeneticVariation CLINVAR FGFR3 mutational status and protein expression in patients with bladder cancer in a Jordanian population. 20542753

2010
dbSNP: rs121913479
rs121913479
FGFR3
T 0.700 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019

2009
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 GeneticVariation CLINVAR Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. 19381019

2009
dbSNP: rs28931615
rs28931615
FGFR3
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: rs28931615
rs28931615
FGFR3
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