XYLT2
xylosyltransferase 2
Summary
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Known Variants336 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115632911 | 17:48,423,314 | G/A | — | benign |
| rs9912067 | 17:48,423,418 | G/A | — | benign |
| rs9912258 | 17:48,423,430 | G/C | — | benign |
| rs1472707539 | 17:48,423,506 | T/G | — | uncertain significance |
| rs1186744711 | 17:48,423,509 | C/T | — | uncertain significance |
| rs376440990 | 17:48,423,516 | G/A | — | likely benign |
| rs1336159526 | 17:48,423,530 | T/A | — | uncertain significance |
| rs9912503 | 17:48,423,531 | G/T | — | benign |
| rs1269448385 | 17:48,423,533 | T/G | — | uncertain significance |
| rs950735137 | 17:48,423,535 | C/T | — | uncertain significance |
| rs1192218990 | 17:48,423,539 | G/T | — | uncertain significance |
| rs1254511984 | 17:48,423,547 | C/T | — | likely benign |
| rs1269599748 | 17:48,423,563 | C/T | — | uncertain significance |
| rs2543933319 | 17:48,423,570 | C/T | — | likely benign |
| rs964005723 | 17:48,423,630 | G/C | — | likely benign |
| rs1419855887 | 17:48,423,645 | A/C | — | likely benign |
| rs374252074 | 17:48,423,646 | C/A | — | benign |
| rs1485308612 | 17:48,423,650 | C/T | — | likely benign |
| rs184856639 | 17:48,423,734 | G/C | — | benign |
| rs739991 | 17:48,430,964 | A/C | — | benign |
| rs181326564 | 17:48,430,975 | T/C | — | likely benign |
| rs777339294 | 17:48,430,999 | G/T | — | uncertain significance |
| rs1912360828 | 17:48,431,011 | A/G | — | likely benign |
| rs756927756 | 17:48,431,013 | G/A | — | uncertain significance |
| rs113835371 | 17:48,431,021 | A/G | — | likely benign |
| rs530027095 | 17:48,431,029 | C/T | — | likely benign |
| rs739990 | 17:48,431,032 | G/A | — | benign |
| rs1211266718 | 17:48,431,048 | G/A | — | uncertain significance |
| rs773702784 | 17:48,431,066 | C/A | — | likely benign |
| rs763473385 | 17:48,431,067 | G/A | — | uncertain significance |
| rs1912364733 | 17:48,431,072 | A/G | — | uncertain significance |
| rs374038125 | 17:48,431,089 | T/C | — | likely benign |
| rs371420967 | 17:48,431,094 | G/T | — | uncertain significance |
| rs766625947 | 17:48,431,106 | G/A | — | uncertain significance |
| rs376709288 | 17:48,431,107 | T/C | — | likely benign |
| rs537844860 | 17:48,431,128 | C/T | — | benign |
| rs369894723 | 17:48,431,129 | G/A | — | uncertain significance |
| rs558268220 | 17:48,431,136 | A/C | — | uncertain significance |
| rs199498175 | 17:48,431,144 | C/T | — | uncertain significance |
| rs201002166 | 17:48,431,145 | G/A | — | uncertain significance |
| rs773514375 | 17:48,431,154 | C/G | — | uncertain significance |
| rs759939858 | 17:48,431,166 | G/A | — | uncertain significance |
| rs761254841 | 17:48,431,175 | G/A | — | uncertain significance |
| rs764731332 | 17:48,431,177 | C/T | — | conflicting classifications of pathogenicity |
| rs754863487 | 17:48,431,196 | C/T | — | uncertain significance |
| rs739989 | 17:48,431,197 | C/T | — | benign |
| rs748114111 | 17:48,431,199 | C/T | — | uncertain significance |
| rs373254318 | 17:48,431,200 | G/A | — | likely benign |
| rs145954495 | 17:48,431,214 | G/A | — | likely benign |
| rs368979862 | 17:48,431,226 | G/C | — | uncertain significance |
| rs544656148 | 17:48,431,266 | C/G | — | likely benign |
| rs371855496 | 17:48,431,279 | G/A | — | uncertain significance |
| rs2543946047 | 17:48,431,291 | A/T | — | uncertain significance |
| rs1459449407 | 17:48,431,292 | G/A | — | uncertain significance |
| rs757417018 | 17:48,431,293 | C/T | — | likely benign |
| rs779253497 | 17:48,431,294 | G/A | — | uncertain significance |
| rs772384817 | 17:48,431,302 | C/T | — | likely benign |
| rs144474638 | 17:48,431,303 | G/A | — | conflicting classifications of pathogenicity |
| rs146157359 | 17:48,431,308 | C/G | — | likely benign |
| rs139789956 | 17:48,431,316 | C/T | — | uncertain significance |
| rs2543946161 | 17:48,431,318 | G/A | — | uncertain significance |
| rs201066232 | 17:48,431,342 | G/A | — | uncertain significance |
| rs2143212748 | 17:48,431,344 | G/A | — | likely benign |
| rs752591188 | 17:48,431,347 | C/T | — | likely benign |
| rs201070818 | 17:48,431,348 | G/A | — | uncertain significance |
| rs764195134 | 17:48,431,351 | G/A | — | uncertain significance |
| rs375796396 | 17:48,431,359 | C/T | — | likely benign |
| rs1555595456 | 17:48,431,364 | T/C | — | uncertain significance |
| rs1272971320 | 17:48,431,371 | A/G | — | likely benign |
| rs1912390619 | 17:48,431,374 | G/A | — | likely benign |
| rs143167798 | 17:48,431,382 | C/T | — | uncertain significance |
| rs1053209381 | 17:48,431,399 | C/A | — | uncertain significance |
| rs2543946473 | 17:48,431,407 | G/A | — | likely benign |
| rs145509264 | 17:48,431,415 | A/G | — | uncertain significance |
| rs753145485 | 17:48,431,457 | C/T | — | uncertain significance |
| rs745496860 | 17:48,431,459 | G/A | — | uncertain significance |
| rs370835556 | 17:48,431,466 | G/A | — | uncertain significance |
| rs200554333 | 17:48,431,467 | G/A | — | benign |
| rs776590366 | 17:48,431,472 | G/C | — | uncertain significance |
| rs2543946718 | 17:48,431,499 | G/A | — | likely benign |
| rs758611818 | 17:48,431,501 | T/C | — | likely benign |
| rs180818756 | 17:48,431,750 | G/A | — | likely benign |
| rs767904634 | 17:48,431,752 | C/T | — | likely benign |
| rs369249519 | 17:48,431,762 | C/T | — | likely benign |
| rs745332027 | 17:48,431,777 | A/G | — | uncertain significance |
| rs148860176 | 17:48,431,783 | G/A | — | uncertain significance |
| rs571962145 | 17:48,431,800 | G/C | — | conflicting classifications of pathogenicity |
| rs201726515 | 17:48,431,809 | C/G | — | likely benign |
| rs773062021 | 17:48,431,832 | C/T | — | uncertain significance |
| rs546156861 | 17:48,431,833 | G/A | — | likely benign |
| rs142606378 | 17:48,431,838 | G/A | — | uncertain significance |
| rs1315395627 | 17:48,431,868 | G/A | — | uncertain significance |
| rs1226618202 | 17:48,431,869 | C/T | — | likely benign |
| rs760893167 | 17:48,431,882 | C/G | — | uncertain significance |
| rs1454779962 | 17:48,431,889 | G/A | — | uncertain significance |
| rs779679769 | 17:48,431,901 | C/T | — | uncertain significance |
| rs150977138 | 17:48,431,902 | C/T | — | likely benign |
| rs373326489 | 17:48,431,903 | G/A | — | uncertain significance |
| rs149653689 | 17:48,431,911 | C/T | — | benign |
| rs532322858 | 17:48,431,912 | G/C | — | uncertain significance |
Showing 100 of 336 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.