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.