GXYLT1
glucoside xylosyltransferase 1
Summary
GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201258077 | 12:42,481,607 | C/G | — | likely benign |
| rs75740340 | 12:42,481,617 | G/T | — | uncertain significance |
| rs566464254 | 12:42,481,631 | T/C | — | uncertain significance |
| rs772359758 | 12:42,481,745 | G/C | — | uncertain significance |
| rs2498614013 | 12:42,491,290 | T/C | — | uncertain significance |
| rs374749531 | 12:42,491,342 | C/T | — | uncertain significance |
| rs2498614180 | 12:42,491,345 | C/T | — | uncertain significance |
| rs139072942 | 12:42,491,379 | T/A | — | likely benign |
| rs2065366493 | 12:42,491,796 | G/A | — | uncertain significance |
| rs2498636522 | 12:42,503,431 | A/C | — | uncertain significance |
| rs372970805 | 12:42,503,455 | C/T | — | likely benign |
| rs7312933 | 12:42,503,467 | T/C | — | benign |
| rs2498636727 | 12:42,503,480 | G/A | — | uncertain significance |
| rs11181330 | 12:42,505,111 | C/T | intron variant | — |
| rs775422274 | 12:42,512,805 | G/T | — | likely benign |
| rs763274911 | 12:42,523,587 | C/T | — | uncertain significance |
| rs751788431 | 12:42,523,609 | A/G | — | uncertain significance |
| rs1214827976 | 12:42,523,639 | G/C | — | uncertain significance |
| rs139695917 | 12:42,527,041 | T/C | intron variant | — |
| rs144755950 | 12:42,535,403 | T/C | intron variant | — |
| rs962548642 | 12:42,538,269 | G/A | — | likely benign |
| rs769089292 | 12:42,538,271 | C/A | — | uncertain significance |
| rs991337229 | 12:42,538,281 | G/T | — | likely benign |
| rs915847272 | 12:42,538,284 | G/A | — | likely benign |
| rs949684661 | 12:42,538,293 | G/T | — | likely benign |
| rs112525075 | 12:42,538,320 | G/A | — | likely benign |
| rs1224756128 | 12:42,538,333 | C/T | — | uncertain significance |
| rs1262467702 | 12:42,538,339 | C/T | — | uncertain significance |
| rs780755790 | 12:42,538,355 | C/T | — | uncertain significance |
| rs1190979768 | 12:42,538,356 | T/C | — | likely benign |
| rs1423027315 | 12:42,538,371 | G/C | — | likely benign |
| rs1432486794 | 12:42,538,383 | A/G | — | likely benign |
| rs1159594980 | 12:42,538,386 | G/A | — | likely benign |
| rs1346687697 | 12:42,538,395 | C/G | — | likely benign |
| rs779360753 | 12:42,538,428 | G/C | — | likely benign |
| rs7965392 | 12:42,540,280 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.