Gene: FGFR3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
G 0.740 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs78311289
rs78311289
FGFR3
G 0.710 GeneticVariation CLINVAR Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. 11429702

2001
dbSNP: rs78311289
rs78311289
FGFR3
G 0.710 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs28931615
rs28931615
FGFR3
A 0.700 GeneticVariation CLINVAR The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues. 19165726

2009
dbSNP: rs121913480
rs121913480
FGFR3
T 0.700 GeneticVariation CLINVAR Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas. 15880580

2005
dbSNP: rs121913484
rs121913484
FGFR3
T 0.700 GeneticVariation CLINVAR Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. 12009017

2002
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 GeneticVariation CLINVAR Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. 11429702

2001
dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999
dbSNP: rs587779383
rs587779383
FGFR3
T 0.700 GeneticVariation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065

1998