EXTL3

exostosin like glycosyltransferase 3

Summary

This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

Known Variants436 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3524288:28,478,892A/T——
rs3771239828:28,486,363G/T——
rs2409258:28,542,475G/T——
rs5658337488:28,573,578T/C—uncertain significance
rs14213931788:28,573,582A/G—likely benign
rs3713026098:28,573,585C/T—likely benign
rs24866167308:28,573,594G/A—uncertain significance
rs7808155448:28,573,598C/T—uncertain significance
rs2009217668:28,573,599G/A—uncertain significance
rs13129635408:28,573,601A/G—uncertain significance
rs7730314528:28,573,606G/T—likely benign
rs5642856828:28,573,609C/T—benign
rs5605375608:28,573,611C/T—uncertain significance
rs7601552368:28,573,612G/A—likely benign
rs5303609888:28,573,618C/T—likely benign
rs21307351118:28,573,621A/T—likely benign
rs24866171348:28,573,637C/T—likely benign
rs7540776518:28,573,640C/T—uncertain significance
rs7581646748:28,573,641G/A—uncertain significance
rs1419488918:28,573,652C/T—uncertain significance
rs1469058648:28,573,653G/A—uncertain significance
rs18011390958:28,573,655A/G—uncertain significance
rs7476588578:28,573,658C/T—uncertain significance
rs7694512108:28,573,659G/A—uncertain significance
rs14713899118:28,573,673A/T—uncertain significance
rs7489893058:28,573,680C/T—uncertain significance
rs7714198868:28,573,681G/A—likely benign
rs7748341648:28,573,684C/G—likely benign
rs9857365278:28,573,690C/T—likely benign
rs21307353798:28,573,691A/T—uncertain significance
rs18011404128:28,573,693C/T—likely benign
rs24866175278:28,573,699C/G—likely benign
rs13508985538:28,573,708G/C—likely benign
rs9108068998:28,573,711C/T—likely benign
rs1415314608:28,573,714C/T—likely benign
rs3758157438:28,573,717C/T—likely benign
rs3726782438:28,573,729C/T—likely benign
rs12919340118:28,573,732C/G—likely benign
rs7620826428:28,573,750T/G—uncertain significance
rs3703207938:28,573,759C/G—likely benign
rs13065947148:28,573,761A/G—uncertain significance
rs3734307058:28,573,763C/T—uncertain significance
rs15852724588:28,573,765G/A—likely benign
rs24866181578:28,573,771T/C—likely benign
rs13876736848:28,573,777C/G—likely benign
rs7462036878:28,573,782T/C—conflicting classifications of pathogenicity
rs7723425698:28,573,789C/T—likely benign
rs24866183858:28,573,792G/A—likely benign
rs7475513098:28,573,795G/C—likely benign
rs3764054588:28,573,798C/T—likely benign
rs7766363868:28,573,799G/A—uncertain significance
rs10129431618:28,573,807G/A—likely benign
rs2001057838:28,573,810C/T—likely benign
rs3740834468:28,573,811G/A—uncertain significance
rs1429016708:28,573,814C/T—likely benign
rs7561807868:28,573,819T/C—likely benign
rs18011454308:28,573,826C/T—uncertain significance
rs13671668678:28,573,827G/A—uncertain significance
rs24866186138:28,573,828C/T—likely benign
rs24866186478:28,573,831C/G—uncertain significance
rs18011457508:28,573,833G/A—uncertain significance
rs7455513078:28,573,845G/A—uncertain significance
rs3773630648:28,573,856C/T—likely benign
rs21307360018:28,573,869C/G—uncertain significance
rs3704488708:28,573,873G/A—likely benign
rs18011470638:28,573,888C/T—likely benign
rs7631529748:28,573,892G/A—uncertain significance
rs1460893008:28,573,897C/T—likely benign
rs18011475718:28,573,909T/C—likely benign
rs5383316368:28,573,918C/T—likely benign
rs24866192908:28,573,924C/G—likely benign
rs18011482518:28,573,937A/G—uncertain significance
rs7613594408:28,573,945C/T—likely benign
rs5341565588:28,573,969C/G—likely benign
rs7486432728:28,573,973A/G—uncertain significance
rs7699132718:28,573,990C/T—likely benign
rs7494018888:28,573,991G/A—uncertain significance
rs13169286848:28,574,011C/T—likely benign
rs7604972658:28,574,013T/C—uncertain significance
rs18011509308:28,574,027C/A—uncertain significance
rs14127978348:28,574,038C/G—likely benign
rs21307365548:28,574,041G/T—likely benign
rs9660989308:28,574,043C/T—uncertain significance
rs13696659588:28,574,048C/T—likely pathogenic
rs5730528618:28,574,049G/A—likely benign
rs7498428908:28,574,050A/T—likely benign
rs24866203228:28,574,052T/C—uncertain significance
rs7625586588:28,574,053G/T—likely benign
rs3718561188:28,574,068C/T—likely benign
rs7532359538:28,574,073C/T—uncertain significance
rs1419087558:28,574,074C/T—likely benign
rs12076442678:28,574,075G/A—uncertain significance
rs7783452628:28,574,077C/T—likely benign
rs14829968808:28,574,080C/T—likely benign
rs18011531928:28,574,086C/A—likely benign
rs18011534448:28,574,087C/T—uncertain significance
rs7492867878:28,574,088C/A—uncertain significance
rs356770038:28,574,089G/A—benign
rs24866206218:28,574,090A/C—uncertain significance
rs1486815878:28,574,099C/T—uncertain significance

Showing 100 of 436 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.