FUT6
fucosyltransferase 6
Summary
The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139295920 | 19:5,831,522 | C/T | — | likely benign |
| rs750776137 | 19:5,831,546 | C/G | — | likely benign |
| rs375242162 | 19:5,831,597 | G/A | — | uncertain significance |
| rs1430657774 | 19:5,831,600 | G/A | — | uncertain significance |
| rs751906752 | 19:5,831,611 | T/C | — | uncertain significance |
| rs377414690 | 19:5,831,615 | G/A | — | uncertain significance |
| rs267605640 | 19:5,831,621 | G/A | — | uncertain significance |
| rs756266523 | 19:5,831,622 | A/C | — | uncertain significance |
| rs145035679 | 19:5,831,634 | G/T | — | conflicting classifications of pathogenicity |
| rs142915411 | 19:5,831,671 | C/A | — | uncertain significance |
| rs61147939 | 19:5,831,672 | G/C | — | benign |
| rs373816097 | 19:5,831,699 | C/T | — | uncertain significance |
| rs1265618801 | 19:5,831,702 | C/A | — | uncertain significance |
| rs112313064 | 19:5,831,724 | T/A | synonymous variant | — |
| rs755746680 | 19:5,831,768 | C/T | — | uncertain significance |
| rs750554195 | 19:5,831,825 | G/A | — | uncertain significance |
| rs17855739 | 19:5,831,840 | C/T | missense variant | uncertain significance |
| rs2057100579 | 19:5,831,852 | A/G | — | uncertain significance |
| rs401508 | 19:5,831,994 | T/C | — | likely benign |
| rs547084703 | 19:5,832,011 | C/G | — | uncertain significance |
| rs2057105751 | 19:5,832,019 | G/C | — | uncertain significance |
| rs978047591 | 19:5,832,038 | G/A | — | uncertain significance |
| rs1050233435 | 19:5,832,053 | C/T | — | uncertain significance |
| rs745883592 | 19:5,832,061 | G/A | — | uncertain significance |
| rs758920738 | 19:5,832,092 | C/T | — | uncertain significance |
| rs577554878 | 19:5,832,111 | C/G | — | uncertain significance |
| rs371761457 | 19:5,832,131 | C/T | — | uncertain significance |
| rs2512761191 | 19:5,832,145 | A/G | — | uncertain significance |
| rs201634023 | 19:5,832,202 | C/T | — | uncertain significance |
| rs778805 | 19:5,832,209 | G/A | — | benign |
| rs766563177 | 19:5,832,256 | T/C | — | uncertain significance |
| rs200968732 | 19:5,832,268 | G/C | — | uncertain significance |
| rs142068894 | 19:5,832,269 | C/T | — | uncertain significance |
| rs373329854 | 19:5,832,292 | C/T | — | uncertain significance |
| rs148077576 | 19:5,832,301 | G/A | — | uncertain significance |
| rs779684935 | 19:5,832,343 | C/T | — | uncertain significance |
| rs1484383907 | 19:5,832,352 | G/A | — | uncertain significance |
| rs2057117172 | 19:5,832,383 | G/T | — | uncertain significance |
| rs780771178 | 19:5,832,437 | A/G | — | uncertain significance |
| rs199791598 | 19:5,832,441 | A/G | — | likely benign |
| rs1213273365 | 19:5,832,449 | A/T | — | uncertain significance |
| rs141062404 | 19:5,832,461 | C/T | — | uncertain significance |
| rs201524447 | 19:5,832,476 | G/A | — | uncertain significance |
| rs374753811 | 19:5,832,538 | C/T | — | uncertain significance |
| rs200710904 | 19:5,832,572 | G/A | — | uncertain significance |
| rs78060698 | 19:5,832,773 | G/A | regulatory region variant | — |
| rs3916080 | 19:5,832,899 | C/G | — | — |
| rs10420107 | 19:5,833,279 | G/A | downstream gene variant | — |
| rs142996053 | 19:5,833,785 | C/A | intron variant | — |
| rs17271883 | 19:5,834,212 | C/A | — | — |
| rs12019136 | 19:5,835,677 | G/A | intron variant | — |
| rs189399461 | 19:5,837,595 | G/C | intron variant | — |
| rs3760776 | 19:5,839,746 | G/A | regulatory region variant | — |
| rs3760775 | 19:5,841,356 | G/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.