GALNT3

polypeptide N-acetylgalactosaminyltransferase 3

Summary

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

Known Variants369 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055009	2:166,604,354	G/A	—	uncertain significance
rs886055010	2:166,604,394	A/G	—	uncertain significance
rs189290881	2:166,604,421	T/A	—	uncertain significance
rs1688290292	2:166,604,485	C/T	—	uncertain significance
rs115493554	2:166,604,508	T/C	—	benign
rs144354033	2:166,604,776	C/T	—	benign
rs886055012	2:166,604,972	T/G	—	uncertain significance
rs886055013	2:166,604,973	A/C	—	uncertain significance
rs13429321	2:166,605,010	A/T	—	benign
rs183674066	2:166,605,105	G/A	—	likely benign
rs771919992	2:166,605,148	C/T	—	uncertain significance
rs1688303362	2:166,605,263	C/A	—	uncertain significance
rs775247455	2:166,605,264	C/A	—	uncertain significance
rs2467853621	2:166,605,294	A/G	—	likely benign
rs2467853628	2:166,605,297	A/G	—	likely benign
rs755865415	2:166,605,307	A/C	—	uncertain significance
rs201456142	2:166,605,323	G/A	—	likely benign
rs150299191	2:166,605,336	G/A	—	likely benign
rs2467853710	2:166,605,339	G/A	—	likely benign
rs769052242	2:166,605,347	C/A	—	uncertain significance
rs375108704	2:166,605,365	C/T	—	uncertain significance
rs142136047	2:166,605,366	A/G	—	likely benign
rs377605951	2:166,605,372	T/G	—	likely benign
rs766791673	2:166,605,373	G/A	—	uncertain significance
rs773969412	2:166,605,378	G/A	—	likely benign
rs1346561173	2:166,605,404	G/A	—	likely benign
rs2467853893	2:166,605,414	C/T	—	uncertain significance
rs367583324	2:166,605,417	G/A	—	likely benign
rs1196352321	2:166,605,422	A/G	—	likely benign
rs2467855129	2:166,606,232	A/G	—	likely benign
rs1422345682	2:166,606,234	T/C	—	likely benign
rs771517567	2:166,606,236	A/C	—	likely benign
rs771512636	2:166,606,240	G/T	—	likely benign
rs775129956	2:166,606,241	C/T	—	likely benign
rs1217701354	2:166,606,251	C/G	—	likely pathogenic
rs137853087	2:166,606,257	G/A	stop gained	pathogenic
rs763643230	2:166,606,258	G/A	—	likely benign
rs1186422890	2:166,606,261	C/T	—	likely benign
rs1688322402	2:166,606,270	C/T	—	likely benign
rs753718380	2:166,606,273	C/T	—	likely benign
rs2467855307	2:166,606,303	G/T	—	pathogenic
rs1688323295	2:166,606,307	G/A	—	uncertain significance
rs267606841	2:166,606,311	A/C	missense variant	pathogenic
rs2467855321	2:166,606,312	T/C	—	likely benign
rs531415480	2:166,606,320	G/A	—	likely benign
rs146521644	2:166,606,326	T/C	—	benign
rs777834339	2:166,606,327	G/A	—	likely benign
rs571016917	2:166,606,335	G/A	—	pathogenic
rs886042853	2:166,606,337	G/A	—	uncertain significance
rs377579661	2:166,606,340	G/A	—	uncertain significance
rs2467855412	2:166,606,341	C/T	—	uncertain significance
rs370190472	2:166,606,342	A/G	—	likely benign
rs1688324714	2:166,606,349	C/G	—	likely pathogenic
rs1558992611	2:166,606,350	A/T	—	likely pathogenic
rs2105398736	2:166,606,356	C/A	—	pathogenic
rs2467855470	2:166,606,357	C/T	—	likely benign
rs1177400674	2:166,606,361	T/C	—	uncertain significance
rs1409734825	2:166,606,362	G/A	—	pathogenic
rs201855584	2:166,606,373	C/T	—	uncertain significance
rs979205397	2:166,606,384	T/C	—	likely benign
rs2467855582	2:166,606,393	G/A	—	likely benign
rs373125597	2:166,606,407	A/G	—	uncertain significance
rs2467855607	2:166,606,411	A/G	—	likely benign
rs2467855611	2:166,606,412	A/G	—	likely benign
rs937533631	2:166,606,414	G/C	—	likely benign
rs756116505	2:166,606,417	T/C	—	likely benign
rs1056014685	2:166,606,420	C/G	—	likely benign
rs377447501	2:166,606,424	G/A	—	likely benign
rs6432845	2:166,606,619	G/A	—	benign
rs13427924	2:166,607,746	T/C	intron variant	—
rs13406280	2:166,610,827	C/T	—	benign
rs62174818	2:166,611,006	C/T	—	benign
rs41268661	2:166,611,086	C/T	—	benign
rs2467861922	2:166,611,125	T/C	—	likely benign
rs766458456	2:166,611,126	G/A	—	likely benign
rs774391241	2:166,611,131	G/A	—	uncertain significance
rs2467861939	2:166,611,135	A/T	—	pathogenic
rs760830864	2:166,611,136	C/T	—	pathogenic
rs2105402822	2:166,611,153	C/T	—	uncertain significance
rs753948743	2:166,611,154	C/G	—	uncertain significance
rs2467862143	2:166,611,170	A/G	—	likely benign
rs534611820	2:166,611,176	T/C	—	likely benign
rs780631238	2:166,611,198	T/C	—	uncertain significance
rs2467862210	2:166,611,200	T/G	—	likely benign
rs769617379	2:166,611,206	A/G	—	likely benign
rs2467862245	2:166,611,211	G/A	—	likely benign
rs1240302653	2:166,611,215	T/C	—	likely benign
rs1688414652	2:166,611,217	G/A	—	likely benign
rs374713815	2:166,611,229	C/T	—	uncertain significance
rs770800462	2:166,611,230	G/A	—	likely benign
rs1053144893	2:166,611,250	T/A	—	likely benign
rs767478974	2:166,611,256	A/G	—	likely benign
rs1317599503	2:166,611,257	G/A	—	likely benign
rs372619915	2:166,611,427	C/G	—	likely benign
rs748891012	2:166,611,431	A/C	—	likely benign
rs200667509	2:166,611,433	A/T	—	likely benign
rs375879489	2:166,611,437	C/T	splice region variant	pathogenic
rs1204200153	2:166,611,439	C/T	—	uncertain significance
rs1688419519	2:166,611,440	A/T	—	likely pathogenic
rs745655924	2:166,611,441	C/T	splice region variant	pathogenic

Showing 100 of 369 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.