present in Gene: FGFR2
present in Chromosome: 10
Position on Chromosome: 121520163
Alleles of this Variant: G/A;C
rs79184941 in
FGFR2 gene and
Acrocephalosyndactylia
PMID 10851026 2000 Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.
rs79184941 in
FGFR2 gene and
Apert syndrome
PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PMID 14499350 2003 Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.
PMID 15975938 2005 Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
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.
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 24489893 2014 We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.
PMID 11121055 2000 Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
PMID 23546041 2013 We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.
rs79184941 in
FGFR2 gene and
Endometrial Neoplasms
PMID 21367659 2011 Targeting mutant fibroblast growth factor receptors in cancer.
PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
PMID 11390973 2001 Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
PMID 22664175 2012 Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.
PMID 24489893 2014 A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
PMID 23495007 2013 The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.
rs79184941 in
FGFR2 gene and
Uterine Carcinosarcoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs79184941 in
FGFR2 gene and
endometrial adenoacanthoma
PMID 22238366 2012 Ponatinib (AP24534), a multitargeted pan-FGFR inhibitor with activity in multiple FGFR-amplified or mutated cancer models.
PMID 23002168 2012 FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor.
PMID 18552176 2008 Drug-sensitive FGFR2 mutations in endometrial carcinoma.