present in Gene: FGFR3
present in Chromosome: 4
Position on Chromosome: 1806163
Alleles of this Variant: A/C;T
rs121913105 in
FGFR3 gene and
Achondroplasia
PMID 10611230 2000 The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
PMID 12297284 2002 FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
PMID 7847369 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3.
PMID 8599935 1996 Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
PMID 8078586 1994 Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
PMID 7758520 1995 A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
rs121913105 in
FGFR3 gene and
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
PMID 10053006 1999 We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
rs121913105 in
FGFR3 gene and
Craniosynostosis
PMID 26818779 2016 Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
PMID 11055896 2000 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
PMID 17875876 2007 Familial acanthosis nigricans due to K650T FGFR3 mutation.
PMID 25809207 2016 Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
PMID 18583390 2008 Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
rs121913105 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.
rs121913105 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 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
PMID 9790257 1998 G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
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 10360402 1999 Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.