FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE <b>Conclusion:</b> The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous. 29868125 2018
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). 30251381 2018
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Apert syndrome (AS), the most severe form of craniosynostosis, is caused by missense mutations including Pro253Arg(P253R) of fibroblast growth factor receptor 2 (FGFR2), which leads to enhanced FGF/FGFR2-signaling activity. 30321816 2018
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome. 28123344 2017
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF. 24578066 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes. 24580805 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE 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). 24656465 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently. 24817968 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2(+/S252W) and Fgfr2(+/P253R) mice. 23519026 2013
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. 23546041 2013
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome. 23915865 2013
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg). 17243131 2008
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE The pathogenesis of Apert syndrome resulting from P253R mutation of FGFR2 is still not fully understood. 18242159 2008
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. 18632557 2008
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure. 14613973 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology. 15282208 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. 15041782 2003
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation UNIPROT 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. 11390973 2001
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE 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. 11390973 2001
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE The arginine residue at position 253 in the linker region between the Ig-like domains D2 and D3 in the wild type fly and worm sequences is particularly striking, as the Pro253Arg mutation in humans is responsible for Apert syndrome. 11457455 2001
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome
0.900 GeneticVariation BEFREE Two additional patients; one with Apert syndrome and P253R mutation, the other with Pfeiffer syndrome and S267P mutation, also appeared to be homozygous. 11484208 2001