View FGFR2 gene homepage

General information
Gene symbol FGFR2
Gene name fibroblast growth factor receptor 2
Chromosome 10
Chromosomal band q25.3-q26
Imprinted Unknown
Genomic reference NG_012449.1
Transcript reference NM_000141.4
Exon/intron information NM_000141.4
Associated with diseases Antley-Bixler, Apert, BSTVS, craniosynost., Crouzon, ID, Pfeiffer, Saethre-Cho., cancer, gastric (Neoplasm of stomach), dysplasia, bent bone syndrome (BBDS), dysplasia, craniofacial-skeletal-dermatologic, Jackson-Weiss syndrome, LADD syndrome, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 49
Unique public DNA variants reported 30
Individuals with public variants 50
Hidden variants 1
Date created June 25, 2012
Date last updated November 08, 2014
Version FGFR2:141108

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/FGFR2
HGNC 3689
Entrez Gene 2263
PubMed articles FGFR2
OMIM - Gene 176943
OMIM - Diseases Antley-Bixler (Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS-2))
Apert (Apert syndrome)
BSTVS (Beare-Stevenson syndrome (BSTVS))
Crouzon (Crouzon syndrome)
Pfeiffer (Pfeiffer syndrome)
Saethre-Cho. (Saethre-Chotzen syndrome)
cancer, gastric (Neoplasm of stomach)
dysplasia, bent bone syndrome (BBDS)
Jackson-Weiss syndrome
LADD syndrome
Scaphocephaly, maxillary retrusion, and mental retardation (Scaphocephaly, maxillary retrusion, and mental re)
HGMD FGFR2
GeneCards FGFR2
GeneTests FGFR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000235 10 transcript variant 1 NM_000141.4 NP_000132.3 49


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