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
0.820 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
0.820 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs121913483
rs121913483
FGFR3
0.820 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs121913483
rs121913483
FGFR3
G 0.820 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
0.800 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs78311289
rs78311289
FGFR3
0.800 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs121913482
rs121913482
FGFR3
0.800 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs78311289
rs78311289
FGFR3
0.800 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs121913482
rs121913482
FGFR3
T 0.800 CausalMutation CLINVAR

dbSNP: rs78311289
rs78311289
FGFR3
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913479
rs121913479
FGFR3
0.700 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001
dbSNP: rs121913479
rs121913479
FGFR3
0.700 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs121913105
rs121913105
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR

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
dbSNP: rs17881656
rs17881656
FGFR3
0.010 GeneticVariation BEFREE The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors. 16877735

2006