Variant: rs78311289 

    present in Gene: FGFR3
    present in Chromosome: 4
    Position on Chromosome: 1806162
    Alleles of this Variant: A/C;G

rs78311289 in FGFR3 gene and Acanthosis Nigricans PMID 18000903 2007 Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

rs78311289 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.

PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

rs78311289 in FGFR3 gene and Carcinoma of bladder PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs78311289 in FGFR3 gene and Craniosynostosis PMID 11055896 2000 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

PMID 21510009 2011 Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.

PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

PMID 20453470 2010 FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

rs78311289 in FGFR3 gene and Malignant neoplasm of urinary bladder PMID 10471491 1999 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

PMID 11314002 2001 Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

rs78311289 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.

rs78311289 in FGFR3 gene and Testicular Germ Cell Tumor PMID 19855393 2009 Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

rs78311289 in FGFR3 gene and Thanatophoric dysplasia, type 2 PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

PMID 8754806 1996 Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).

PMID 12297284 2002 FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.