GFUS
GDP-L-fucose synthase
Summary
Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2978 | 8:144,694,890 | G/C | — | benign |
| rs11987209 | 8:144,695,053 | G/A | — | benign |
| rs199878471 | 8:144,695,088 | G/C | — | uncertain significance |
| rs780580509 | 8:144,695,097 | C/G | — | uncertain significance |
| rs1240240583 | 8:144,695,135 | G/A | — | uncertain significance |
| rs2242087 | 8:144,695,176 | C/T | — | benign |
| rs117632005 | 8:144,695,318 | G/A | — | benign |
| rs1416934742 | 8:144,695,378 | G/C | — | uncertain significance |
| rs781536733 | 8:144,695,386 | C/T | — | likely benign |
| rs769312636 | 8:144,695,428 | G/A | — | uncertain significance |
| rs1283781341 | 8:144,695,458 | G/A | — | uncertain significance |
| rs2242086 | 8:144,695,499 | A/C | — | benign |
| rs75004647 | 8:144,695,566 | C/T | — | benign |
| rs902937726 | 8:144,695,707 | T/C | — | uncertain significance |
| rs2538416747 | 8:144,695,708 | G/A | — | uncertain significance |
| rs1364577193 | 8:144,695,729 | C/A | — | uncertain significance |
| rs368114593 | 8:144,695,731 | G/A | — | uncertain significance |
| rs779642108 | 8:144,695,735 | C/T | — | uncertain significance |
| rs2131411961 | 8:144,695,770 | C/T | — | uncertain significance |
| rs6558377 | 8:144,695,867 | A/G | — | benign |
| rs376988546 | 8:144,695,957 | G/A | — | uncertain significance |
| rs4634659 | 8:144,696,203 | T/C | — | benign |
| rs569059926 | 8:144,696,357 | G/A | — | uncertain significance |
| rs201183774 | 8:144,696,363 | T/C | — | uncertain significance |
| rs368480990 | 8:144,696,373 | C/G | — | uncertain significance |
| rs141236351 | 8:144,696,389 | G/A | — | uncertain significance |
| rs1829664160 | 8:144,696,522 | G/A | — | uncertain significance |
| rs145040472 | 8:144,696,541 | C/T | — | uncertain significance |
| rs770251510 | 8:144,696,613 | G/C | — | uncertain significance |
| rs148151871 | 8:144,696,808 | G/A | — | likely benign |
| rs201368998 | 8:144,696,810 | T/C | — | uncertain significance |
| rs2538421379 | 8:144,696,819 | T/C | — | uncertain significance |
| rs138619385 | 8:144,696,849 | G/C | — | uncertain significance |
| rs199822261 | 8:144,696,860 | T/C | — | uncertain significance |
| rs370546429 | 8:144,696,973 | G/A | — | uncertain significance |
| rs1049832 | 8:144,697,041 | G/A | — | benign |
| rs749330428 | 8:144,697,048 | G/A | — | uncertain significance |
| rs1440221924 | 8:144,697,058 | C/T | — | uncertain significance |
| rs148674156 | 8:144,698,297 | G/C | — | uncertain significance |
| rs749145675 | 8:144,698,341 | C/T | — | uncertain significance |
| rs139998516 | 8:144,698,374 | G/A | — | uncertain significance |
| rs183332045 | 8:144,698,467 | G/T | regulatory region variant | — |
| rs112253494 | 8:144,698,531 | G/A | — | benign |
| rs776836876 | 8:144,698,755 | G/A | — | uncertain significance |
| rs67210953 | 8:144,699,601 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.