SULF1

sulfatase 1

Summary

This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Known Variants286 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2623047	8:70,378,496	A/T	—	—
rs6982250	8:70,412,450	C/T	intron variant	—
rs1441197	8:70,419,134	C/G	intron variant	—
rs4592042	8:70,436,379	C/G	intron variant	—
rs28594971	8:70,468,380	G/A	intron variant	—
rs1437157938	8:70,476,215	A/G	—	uncertain significance
rs2536965619	8:70,476,221	C/T	—	uncertain significance
rs777937186	8:70,476,231	T/C	—	likely benign
rs773501788	8:70,476,266	G/A	—	uncertain significance
rs201640007	8:70,476,272	T/A	—	uncertain significance
rs773848473	8:70,476,278	C/T	—	uncertain significance
rs201650068	8:70,476,279	G/A	—	likely benign
rs754243786	8:70,476,286	A/G	—	uncertain significance
rs760630163	8:70,476,290	C/T	—	uncertain significance
rs748661181	8:70,476,323	G/A	—	uncertain significance
rs367922640	8:70,476,324	A/C	—	likely benign
rs1206467816	8:70,476,330	C/T	—	likely benign
rs771165384	8:70,476,335	G/A	—	uncertain significance
rs760249922	8:70,476,361	G/A	—	uncertain significance
rs746558656	8:70,488,194	G/A	—	likely benign
rs199820581	8:70,488,213	C/A	—	uncertain significance
rs1273788067	8:70,488,221	G/C	—	uncertain significance
rs772952218	8:70,488,229	C/T	—	uncertain significance
rs762727620	8:70,488,230	G/A	—	likely benign
rs141505559	8:70,488,251	G/C	—	likely benign
rs746268118	8:70,488,255	G/A	—	uncertain significance
rs2537043881	8:70,488,267	A/G	—	uncertain significance
rs6984529	8:70,488,299	G/A	—	benign
rs149786573	8:70,488,304	G/A	—	uncertain significance
rs747693370	8:70,488,312	A/T	—	uncertain significance
rs377416230	8:70,488,314	G/A	—	uncertain significance
rs138186217	8:70,488,320	C/T	—	likely benign
rs2537044677	8:70,488,336	A/C	—	uncertain significance
rs943768137	8:70,488,343	A/G	—	uncertain significance
rs370128603	8:70,488,359	C/T	—	likely benign
rs541390594	8:70,488,360	G/A	—	uncertain significance
rs2537045105	8:70,488,367	G/A	—	uncertain significance
rs780510098	8:70,488,375	C/G	—	uncertain significance
rs746667151	8:70,488,377	C/T	—	likely benign
rs370291955	8:70,488,380	G/A	—	likely benign
rs1305693523	8:70,488,386	G/A	—	likely benign
rs888350690	8:70,488,396	G/T	—	uncertain significance
rs774063520	8:70,488,402	C/T	—	uncertain significance
rs147909650	8:70,488,403	G/A	—	uncertain significance
rs1805599318	8:70,488,429	A/G	—	uncertain significance
rs373781411	8:70,488,457	G/A	—	likely benign
rs1384693554	8:70,488,463	A/T	—	likely benign
rs13273088	8:70,493,974	G/T	—	—
rs2241882	8:70,498,501	A/G	—	benign
rs149562933	8:70,498,593	C/A	—	likely benign
rs2537107349	8:70,498,616	A/G	—	uncertain significance
rs2537107473	8:70,498,631	A/G	—	uncertain significance
rs753404413	8:70,498,632	C/T	—	likely benign
rs1455316642	8:70,498,637	C/T	—	uncertain significance
rs147245253	8:70,498,639	C/G	—	uncertain significance
rs758143120	8:70,498,641	T/C	—	likely benign
rs1387439634	8:70,498,649	G/C	—	uncertain significance
rs199957740	8:70,498,668	C/G	—	uncertain significance
rs746778898	8:70,498,679	G/A	—	uncertain significance
rs139810682	8:70,498,701	T/C	—	likely benign
rs200127043	8:70,498,702	C/T	—	uncertain significance
rs186655894	8:70,498,703	G/A	—	uncertain significance
rs538017286	8:70,498,708	G/A	—	conflicting classifications of pathogenicity
rs1402240007	8:70,498,724	A/G	—	uncertain significance
rs2537108498	8:70,498,733	A/C	—	uncertain significance
rs1348681514	8:70,498,738	G/A	—	uncertain significance
rs1170015538	8:70,498,748	T/C	—	uncertain significance
rs2241881	8:70,498,908	T/C	—	benign
rs761140870	8:70,501,195	T/C	—	likely benign
rs776280066	8:70,501,234	G/A	—	uncertain significance
rs1273092836	8:70,501,241	T/G	—	uncertain significance
rs1439234407	8:70,501,256	T/C	—	uncertain significance
rs764867067	8:70,501,273	C/T	—	uncertain significance
rs1806675609	8:70,501,279	A/G	—	uncertain significance
rs191906713	8:70,501,281	G/A	—	likely benign
rs2130284966	8:70,501,283	C/T	—	uncertain significance
rs751417229	8:70,501,285	G/C	—	uncertain significance
rs754837734	8:70,501,296	G/A	—	likely benign
rs561821873	8:70,501,306	G/A	—	likely benign
rs1407025182	8:70,501,310	C/T	—	likely benign
rs111474126	8:70,501,311	G/T	—	likely benign
rs368146472	8:70,501,314	C/T	—	likely benign
rs77728226	8:70,501,317	T/C	—	benign
rs1806684225	8:70,501,375	A/C	—	uncertain significance
rs534720548	8:70,501,383	A/T	—	likely benign
rs969158681	8:70,501,384	A/G	—	likely benign
rs1078494	8:70,512,693	G/T	—	benign
rs1078495	8:70,512,729	A/G	—	benign
rs114844843	8:70,512,824	C/T	—	benign
rs2537193701	8:70,512,866	A/G	—	uncertain significance
rs1490869933	8:70,512,887	C/A	—	uncertain significance
rs781689532	8:70,512,892	C/T	—	likely benign
rs770550261	8:70,512,917	A/G	—	uncertain significance
rs61746702	8:70,512,961	G/A	—	benign
rs1391580571	8:70,512,964	G/A	—	uncertain significance
rs2537194763	8:70,512,965	T/G	—	uncertain significance
rs2537195221	8:70,513,005	A/T	—	likely benign
rs751737837	8:70,513,006	C/T	—	likely benign
rs752040	8:70,513,855	A/G	—	benign
rs142148202	8:70,513,891	G/A	—	benign

Showing 100 of 286 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.