FGFR2

fibroblast growth factor receptor 2

Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

Known Variants639 total

rsidPosition (GRCh37)AllelesClassClinVar
rs298158210:121,593,985G/Aintron variantbenign
rs119479933310:123,237,832G/T—uncertain significance
rs88604675710:123,237,882G/A—uncertain significance
rs88604675810:123,237,969A/G—uncertain significance
rs88604675910:123,238,002G/A—uncertain significance
rs313583010:123,238,052T/C—likely benign
rs7164026110:123,238,070G/A—likely benign
rs88604676010:123,238,084T/G—uncertain significance
rs184429842110:123,238,088G/C—uncertain significance
rs140303823010:123,238,131T/G—uncertain significance
rs37010600810:123,238,245A/G—uncertain significance
rs88604676110:123,238,301A/G—uncertain significance
rs18561785910:123,238,450C/T—uncertain significance
rs5572340510:123,238,497T/C—uncertain significance
rs54929304710:123,238,641C/G—uncertain significance
rs56615508810:123,238,697C/A—conflicting classifications of pathogenicity
rs313582710:123,238,874A/G—uncertain significance
rs4129435110:123,238,902C/T—benign
rs37331393010:123,238,908T/C—uncertain significance
rs313582610:123,238,968C/T—likely benign
rs15051985310:123,239,047T/C—likely benign
rs57798378610:123,239,089T/C—likely benign
rs104705710:123,239,112A/G—benign
rs76309521910:123,239,115C/T—uncertain significance
rs136890274810:123,239,116G/A—likely benign
rs464791710:123,239,187G/A—likely benign
rs57447479410:123,239,260C/T—conflicting classifications of pathogenicity
rs54707976210:123,239,370T/C—uncertain significance
rs77423230610:123,239,389G/A—likely benign
rs145065796910:123,239,406G/T—uncertain significance
rs36800327910:123,239,411A/G—conflicting classifications of pathogenicity
rs75949694210:123,239,413G/C—uncertain significance
rs37171275910:123,239,416T/C—likely benign
rs76495911710:123,239,421C/T—conflicting classifications of pathogenicity
rs55846004710:123,239,422G/T—uncertain significance
rs57581217810:123,239,427G/A—uncertain significance
rs74633645310:123,239,438G/A—uncertain significance
rs184445437310:123,239,439G/A—uncertain significance
rs213368174210:123,239,448C/A—uncertain significance
rs213368279210:123,239,469A/G—uncertain significance
rs95491758510:123,239,487G/A—uncertain significance
rs213368429310:123,239,497T/C—likely benign
rs37499390510:123,239,508C/T—uncertain significance
rs14847859710:123,239,509G/A—likely benign
rs76517466510:123,239,526C/T—uncertain significance
rs75127394210:123,239,550G/A—likely benign
rs253927069310:123,239,552G/A—likely benign
rs313582310:123,239,754G/T—likely benign
rs55453464810:123,240,560A/C—likely benign
rs4129423510:123,241,124G/A—benign
rs57009958910:123,241,269T/C—likely benign
rs179960310:123,241,354A/T—benign
rs1159815210:123,241,355T/A—benign
rs1159815310:123,241,361T/A—benign
rs313581710:123,241,373C/T—benign
rs164916610:123,241,383C/T—benign
rs5757194210:123,241,389C/T—benign
rs56159731010:123,241,456C/T—benign
rs164916710:123,241,496T/C—benign
rs313581610:123,241,616G/A—benign
rs18917946310:123,241,686T/C—not provided
rs255653710:123,241,794C/T—benign
rs7148467210:123,241,807C/T—benign
rs53233023410:123,241,893G/A—likely benign
rs313581510:123,242,016C/T—likely benign
rs313581410:123,242,026C/T—benign
rs57072448810:123,242,718G/A—likely benign
rs227820210:123,243,197A/G—benign
rs213376655910:123,243,223T/C—uncertain significance
rs75310316010:123,243,230G/A—likely benign
rs184505673710:123,243,257C/T—likely benign
rs75750181610:123,243,262T/G—uncertain significance
rs124643794110:123,243,266C/T—likely benign
rs75492871310:123,243,268T/C—uncertain significance
rs14263998810:123,243,281G/A—likely benign
rs74794102010:123,243,283G/A—uncertain significance
rs139356383710:123,243,290A/G—likely benign
rs115787593910:123,243,303C/G—uncertain significance
rs143256771510:123,243,308C/G—uncertain significance
rs213377171710:123,243,313T/A—uncertain significance
rs118509393110:123,243,317C/A—uncertain significance
rs143223013210:123,243,322G/A—likely benign
rs184506764610:123,243,328T/C—likely benign
rs136748111710:123,243,336C/T—likely benign
rs464791910:123,243,667C/T—benign
rs313580710:123,244,677C/T—benign
rs161377610:123,244,834T/C—benign
rs37739747810:123,244,902C/T—likely benign
rs213379333210:123,244,910G/T—uncertain significance
rs122460632710:123,244,913C/T—uncertain significance
rs5563724410:123,244,914G/A—conflicting classifications of pathogenicity
rs20045300210:123,244,915T/C—uncertain significance
rs145808192010:123,244,927G/C—uncertain significance
rs158971397410:123,244,952C/T—uncertain significance
rs14081316310:123,244,980G/A—conflicting classifications of pathogenicity
rs213379738110:123,244,982G/T—uncertain significance
rs213379840710:123,244,996G/A—uncertain significance
rs79472716310:123,244,998C/T—conflicting classifications of pathogenicity
rs213379889810:123,245,003C/A—uncertain significance
rs253941919510:123,245,008A/G—likely pathogenic

Showing 100 of 639 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.