Variant: rs77543610 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121520160
    Alleles of this Variant: G/C

rs77543610 in FGFR2 gene and Apert syndrome PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 15190072 2004 Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.

PMID 9002682 1997 In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.

PMID 7719344 1995 We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 9452027 1998 Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

PMID 11390973 2001 Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.

rs77543610 in FGFR2 gene and Craniofacial dysostosis type 1 PMID 15389579 2005 P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 17251833 2007 Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.

PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

PMID 20489451 2010 Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

PMID 24656465 2014 We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).

PMID 9700203 1998 Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

rs77543610 in FGFR2 gene and Head and Neck Neoplasms PMID 23786770 2013 Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma.