Variant: rs121913478 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121515280
    Alleles of this Variant: T/C

rs121913478 in FGFR2 gene and Cutis Gyrata Syndrome of Beare And Stevenson PMID 8696350 1996 Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

PMID 12000365 2002 Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

rs121913478 in FGFR2 gene and Endometrial Neoplasms PMID 21367659 2011 Targeting mutant fibroblast growth factor receptors in cancer.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913478 in FGFR2 gene and Pfeiffer Syndrome PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 9002682 1997 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 7719345 1995 Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

PMID 16844695 2006 Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 7719333 1995 FGFR2 mutations in Pfeiffer syndrome.

PMID 9719378 1998 Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

PMID 10945669 2000 Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.