POGLUT1

protein O-glucosyltransferase 1

Summary

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Known Variants206 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs587777293	3:119,187,879	G/A	stop gained	pathogenic
rs749876526	3:119,187,885	G/C	—	uncertain significance
rs138793779	3:119,187,889	G/A	—	likely benign
rs765916576	3:119,187,895	T/A	—	likely benign
rs759575578	3:119,187,906	T/G	—	uncertain significance
rs1352634929	3:119,187,911	T/G	—	uncertain significance
rs2473015120	3:119,187,913	G/T	—	uncertain significance
rs764990612	3:119,187,919	C/T	—	likely benign
rs758217795	3:119,187,924	C/T	—	uncertain significance
rs898134695	3:119,187,933	A/G	—	uncertain significance
rs780241513	3:119,187,935	G/A	—	uncertain significance
rs749739928	3:119,187,939	G/A	—	uncertain significance
rs2081433531	3:119,187,946	G/A	—	likely benign
rs769326521	3:119,187,961	C/G	—	likely benign
rs371360954	3:119,187,972	C/G	—	likely benign
rs75388849	3:119,187,973	G/T	—	likely benign
rs530616432	3:119,188,085	C/T	—	likely benign
rs75416321	3:119,188,213	G/T	—	benign
rs762938903	3:119,188,647	A/G	—	likely benign
rs1379336991	3:119,188,660	T/C	—	likely benign
rs1489837901	3:119,188,677	G/C	—	uncertain significance
rs2473016630	3:119,188,684	T/C	—	uncertain significance
rs2473016694	3:119,188,714	A/C	—	uncertain significance
rs375158410	3:119,188,716	T/C	—	likely benign
rs753241179	3:119,188,718	A/G	—	uncertain significance
rs142061881	3:119,188,731	A/C	—	benign
rs2473016761	3:119,188,740	C/A	—	uncertain significance
rs1185123117	3:119,188,748	G/A	—	uncertain significance
rs745522007	3:119,188,751	A/G	—	uncertain significance
rs2473016796	3:119,188,753	C/T	—	uncertain significance
rs2081450005	3:119,188,757	G/A	—	uncertain significance
rs749193424	3:119,188,761	A/C	—	uncertain significance
rs768597856	3:119,188,762	G/T	—	uncertain significance
rs774181502	3:119,188,765	C/A	—	likely benign
rs771770677	3:119,188,769	T/C	—	likely benign
rs982518266	3:119,188,775	A/T	—	likely benign
rs6438531	3:119,188,895	C/G	—	benign
rs2473019820	3:119,190,138	A/G	—	likely benign
rs1470522631	3:119,190,144	A/G	—	likely benign
rs1178986277	3:119,190,146	T/G	—	likely benign
rs1024635448	3:119,190,147	C/G	—	likely benign
rs368666482	3:119,190,150	T/C	—	likely benign
rs905629792	3:119,190,184	C/T	—	likely pathogenic
rs779712185	3:119,190,185	G/A	—	uncertain significance
rs2081470312	3:119,190,188	G/C	—	uncertain significance
rs1001425015	3:119,190,190	G/A	—	uncertain significance
rs771885260	3:119,190,206	T/C	—	uncertain significance
rs773187042	3:119,190,211	G/A	—	likely benign
rs2473019982	3:119,190,212	C/T	—	uncertain significance
rs1347125448	3:119,190,217	G/T	—	uncertain significance
rs770097304	3:119,190,227	G/A	—	uncertain significance
rs2473020036	3:119,190,232	C/T	—	likely benign
rs775877723	3:119,190,236	G/A	—	uncertain significance
rs763068507	3:119,190,249	G/C	—	uncertain significance
rs201555799	3:119,190,261	C/T	—	likely benign
rs138038847	3:119,190,267	G/A	—	likely benign
rs762277732	3:119,190,271	C/T	—	likely pathogenic
rs756493199	3:119,190,272	G/A	—	uncertain significance
rs149506932	3:119,190,273	G/C	—	likely benign
rs753496726	3:119,190,276	A/G	—	likely benign
rs2473020155	3:119,190,279	T/A	—	uncertain significance
rs2081473073	3:119,190,291	C/T	—	likely benign
rs748094149	3:119,190,294	C/T	—	likely benign
rs777880478	3:119,190,311	C/T	—	likely benign
rs372780198	3:119,190,312	G/A	—	likely benign
rs114926652	3:119,190,576	G/A	—	likely benign
rs6414283	3:119,195,913	C/T	—	benign
rs2081548832	3:119,196,147	G/A	—	likely benign
rs3732420	3:119,196,166	T/C	—	benign
rs2473027199	3:119,196,170	G/A	—	uncertain significance
rs777794845	3:119,196,188	G/C	—	uncertain significance
rs2473027227	3:119,196,195	T/C	—	uncertain significance
rs757112530	3:119,196,197	G/A	—	uncertain significance
rs369098373	3:119,196,200	C/T	—	uncertain significance
rs147674217	3:119,196,201	G/A	—	conflicting classifications of pathogenicity
rs2081549931	3:119,196,212	A/G	—	uncertain significance
rs144240664	3:119,196,217	G/A	—	likely benign
rs1015531524	3:119,196,225	T/C	—	conflicting classifications of pathogenicity
rs960212367	3:119,196,228	A/G	—	uncertain significance
rs140695299	3:119,196,233	C/T	—	conflicting classifications of pathogenicity
rs766709782	3:119,196,234	G/A	—	uncertain significance
rs1176836370	3:119,196,251	C/G	—	uncertain significance
rs1412451711	3:119,196,266	C/T	—	uncertain significance
rs764743275	3:119,196,269	G/A	—	uncertain significance
rs752408002	3:119,196,270	C/T	—	uncertain significance
rs2473027450	3:119,196,273	T/C	—	uncertain significance
rs147356960	3:119,196,288	T/C	—	uncertain significance
rs139427413	3:119,196,289	C/T	—	benign
rs1447670807	3:119,196,290	A/G	—	uncertain significance
rs1477476905	3:119,196,298	A/G	—	uncertain significance
rs3732419	3:119,196,334	G/T	—	benign
rs6799315	3:119,196,437	G/A	—	benign
rs4688007	3:119,198,873	G/A	—	benign
rs751780827	3:119,198,907	T/A	—	conflicting classifications of pathogenicity
rs1368042938	3:119,198,908	A/G	—	uncertain significance
rs781389819	3:119,198,920	T/C	—	uncertain significance
rs1489024391	3:119,198,930	T/C	—	likely benign
rs2473031729	3:119,198,946	G/A	—	uncertain significance
rs566241791	3:119,198,988	C/T	—	uncertain significance
rs189569196	3:119,198,989	G/A	—	uncertain significance

Showing 100 of 206 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.