Variant: rs121913485 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1804372
    Alleles of this Variant: A/G

rs121913485 in FGFR3 gene and Carcinoma PMID 11429702 2001 Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.

rs121913485 in FGFR3 gene and Carcinoma of bladder PMID 19381019 2009 Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 20542753 2010 FGFR3 mutational status and protein expression in patients with bladder cancer in a Jordanian population.

rs121913485 in FGFR3 gene and Craniosynostosis PMID 19088846 2008 Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.

PMID 24476948 2014 Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

PMID 28249712 2017 Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.

PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

rs121913485 in FGFR3 gene and Myeloproliferative disease PMID 21273588 2011 Constitutively active FGFR3 with Lys650Glu mutation enhances bortezomib sensitivity in plasma cell malignancy.

PMID 22869148 2013 Tumour cell responses to new fibroblast growth factor receptor tyrosine kinase inhibitors and identification of a gatekeeper mutation in FGFR3 as a mechanism of acquired resistance.

PMID 19331127 2009 Bortezomib therapeutic effect is associated with expression of FGFR3 in multiple myeloma cells.

rs121913485 in FGFR3 gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913485 in FGFR3 gene and Seborrheic keratosis PMID 15772091 2005 Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

rs121913485 in FGFR3 gene and THANATOPHORIC DYSPLASIA, TYPE I (disorder) PMID 8589699 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

PMID 10360402 1999 Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

PMID 10671061 1998 Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

PMID 9790257 1998 G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

rs121913485 in FGFR3 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.