LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Summary

This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]

Known Variants228 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2865597:2,551,863G/A—benign
rs730491287:2,551,979G/C—likely benign
rs1153806087:2,552,381G/A—benign
rs1151586977:2,552,418C/A—likely benign
rs1392147227:2,552,806G/C—benign
rs3716002757:2,552,946G/C—uncertain significance
rs2865607:2,552,986A/C—benign
rs730491307:2,553,030C/T—benign
rs584691467:2,553,183G/A—benign
rs603359387:2,553,223A/G—benign
rs1432455207:2,558,214G/T—likely benign
rs5322182837:2,559,422C/G—likely benign
rs13902031837:2,559,501C/A—likely benign
rs13412520967:2,559,505C/G—uncertain significance
rs15832716777:2,559,520C/T—likely benign
rs14254557907:2,559,532C/G—uncertain significance
rs17797351697:2,559,536C/G—uncertain significance
rs17797355317:2,559,541G/A—uncertain significance
rs17797361827:2,559,552C/T—likely benign
rs21283750687:2,559,562G/T—uncertain significance
rs7673389967:2,559,570C/T—likely benign
rs13156115337:2,559,579G/T—likely benign
rs11820480817:2,559,587C/T—uncertain significance
rs9657251027:2,559,595C/A—uncertain significance
rs14365412797:2,559,597C/G—likely benign
rs17797380777:2,559,600C/T—likely benign
rs11950808597:2,559,607G/T—uncertain significance
rs13229481617:2,559,618G/A—likely benign
rs25342284447:2,559,621G/A—likely benign
rs13692977687:2,559,626G/T—uncertain significance
rs17797394177:2,559,632C/T—uncertain significance
rs13228725277:2,559,635G/A—uncertain significance
rs17797399177:2,559,650C/T—uncertain significance
rs12340620847:2,559,652C/G—uncertain significance
rs17797400867:2,559,653C/T—uncertain significance
rs9313784577:2,559,656C/A—uncertain significance
rs12430387717:2,559,678G/A—likely benign
rs14463320057:2,559,708G/A—likely benign
rs17797429397:2,559,709C/T—uncertain significance
rs14054551607:2,559,713G/A—uncertain significance
rs25342288067:2,559,717G/C—likely benign
rs10470446717:2,559,720C/A—likely benign
rs25342288567:2,559,729C/T—likely benign
rs7501944907:2,559,731G/T—uncertain significance
rs25342288757:2,559,732C/T—likely benign
rs14052552617:2,559,740C/A—uncertain significance
rs9067949107:2,559,741C/T—likely benign
rs25342290017:2,559,757G/A—uncertain significance
rs17797452287:2,559,759G/A—likely benign
rs9383208627:2,559,761G/A—uncertain significance
rs10554895607:2,559,766C/T—uncertain significance
rs7659042637:2,559,779C/T—uncertain significance
rs11596089937:2,559,780C/G—likely benign
rs14681059827:2,559,782C/G—uncertain significance
rs7784759877:2,559,789C/T—likely benign
rs9030138247:2,559,790G/A—uncertain significance
rs15832719917:2,559,794A/T—uncertain significance
rs7589462057:2,559,801C/A—uncertain significance
rs7783332817:2,559,802C/G—uncertain significance
rs7473311727:2,559,803C/T—uncertain significance
rs5524554907:2,559,807C/T—likely benign
rs7617858787:2,559,811C/T—likely benign
rs3763427637:2,559,822G/T—conflicting classifications of pathogenicity
rs1995111707:2,559,829C/A—uncertain significance
rs7646964237:2,559,852C/G—likely benign
rs13409001317:2,559,858C/T—likely benign
rs7589977927:2,559,863A/G—conflicting classifications of pathogenicity
rs17797527297:2,559,864A/C—uncertain significance
rs9841656357:2,559,888C/T—likely benign
rs5349587097:2,559,897G/T—likely benign
rs9823174937:2,559,915C/G—likely benign
rs25342297337:2,559,938C/G—likely benign
rs21283752377:2,559,939G/A—likely benign
rs10318396387:2,559,943C/T—likely benign
rs5367160917:2,559,946G/T—likely benign
rs132479917:2,560,208C/G—benign
rs1496630937:2,562,363G/Aregulatory region variant—
rs127000277:2,564,038A/G—benign
rs21283768617:2,564,311C/T—likely benign
rs25342402667:2,564,317T/A—likely benign
rs14131693617:2,564,330C/T—likely pathogenic
rs7687853177:2,564,356G/A—uncertain significance
rs7763151257:2,564,373C/G—uncertain significance
rs7695744417:2,564,375C/T—uncertain significance
rs1510537537:2,564,376G/A—likely benign
rs1410083527:2,564,380G/A—benign
rs7637367447:2,564,387G/C—likely benign
rs11760795227:2,564,393G/C—likely benign
rs7510568867:2,564,397C/T—likely benign
rs624442507:2,564,849A/G—benign
rs1997455127:2,564,850C/T—uncertain significance
rs1389238767:2,564,857C/T—likely benign
rs25342425247:2,564,872C/T—likely benign
rs7458402537:2,564,876T/C—uncertain significance
rs3717077307:2,564,877C/T—uncertain significance
rs7800150987:2,564,878G/A—uncertain significance
rs7490503547:2,564,879G/A—uncertain significance
rs3734260247:2,564,891C/T—uncertain significance
rs7716751827:2,564,892G/A—uncertain significance
rs3762346077:2,564,898C/T—uncertain significance

Showing 100 of 228 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.