RFT1
RFT1 glycolipid translocator homolog
Summary
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
Known Variants484 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2336723 | 3:53,106,047 | T/G | — | — |
| rs2564940 | 3:53,107,569 | G/T | — | — |
| rs6786405 | 3:53,110,212 | G/A | intron variant | — |
| rs545290580 | 3:53,112,001 | G/A | — | — |
| rs2336725 | 3:53,118,739 | C/T | regulatory region variant | — |
| rs4687701 | 3:53,121,276 | A/G | downstream gene variant | — |
| rs2581782 | 3:53,122,257 | T/C | downstream gene variant | — |
| rs1383425042 | 3:53,122,571 | T/C | — | uncertain significance |
| rs886058708 | 3:53,122,577 | A/G | — | uncertain significance |
| rs766245126 | 3:53,122,633 | G/A | — | uncertain significance |
| rs886058709 | 3:53,122,728 | T/C | — | uncertain significance |
| rs886058710 | 3:53,122,826 | G/C | — | uncertain significance |
| rs571109920 | 3:53,122,851 | T/G | — | uncertain significance |
| rs886058712 | 3:53,122,922 | G/C | — | uncertain significance |
| rs1223140817 | 3:53,122,923 | C/T | — | uncertain significance |
| rs886058713 | 3:53,122,924 | G/A | — | uncertain significance |
| rs1390396374 | 3:53,122,927 | C/T | — | uncertain significance |
| rs891624907 | 3:53,122,928 | G/A | — | uncertain significance |
| rs2082093 | 3:53,122,969 | G/A | — | benign |
| rs2099162 | 3:53,123,032 | C/T | — | benign |
| rs9875573 | 3:53,123,079 | A/T | — | benign |
| rs143710210 | 3:53,123,099 | C/T | — | uncertain significance |
| rs866438979 | 3:53,123,129 | C/T | — | uncertain significance |
| rs371144725 | 3:53,123,130 | G/A | — | uncertain significance |
| rs886058714 | 3:53,123,132 | C/G | — | uncertain significance |
| rs186393432 | 3:53,123,213 | G/A | — | uncertain significance |
| rs148022607 | 3:53,123,264 | A/G | — | benign |
| rs891368 | 3:53,123,273 | A/G | — | benign |
| rs560974236 | 3:53,123,462 | T/C | — | uncertain significance |
| rs755371328 | 3:53,123,466 | A/G | — | uncertain significance |
| rs1078968 | 3:53,123,486 | G/A | — | benign |
| rs1036043688 | 3:53,123,491 | C/T | — | uncertain significance |
| rs886058715 | 3:53,123,492 | C/T | — | uncertain significance |
| rs575340631 | 3:53,123,553 | A/T | — | uncertain significance |
| rs886058716 | 3:53,123,569 | G/A | — | uncertain significance |
| rs190988002 | 3:53,123,639 | A/T | — | uncertain significance |
| rs886058717 | 3:53,123,664 | T/G | — | uncertain significance |
| rs886058718 | 3:53,123,704 | C/T | — | uncertain significance |
| rs886058719 | 3:53,123,705 | G/A | — | uncertain significance |
| rs1249353870 | 3:53,123,732 | T/C | — | uncertain significance |
| rs141744872 | 3:53,123,754 | A/G | — | uncertain significance |
| rs180693200 | 3:53,123,758 | G/A | — | uncertain significance |
| rs138775144 | 3:53,123,843 | G/A | — | uncertain significance |
| rs762188099 | 3:53,123,867 | T/C | — | uncertain significance |
| rs75112182 | 3:53,123,944 | G/A | — | benign |
| rs752158709 | 3:53,124,018 | C/T | — | uncertain significance |
| rs202235284 | 3:53,124,019 | G/A | — | uncertain significance |
| rs114515847 | 3:53,124,115 | G/A | — | benign |
| rs114029473 | 3:53,124,116 | A/T | — | benign |
| rs146195364 | 3:53,124,226 | C/A | — | uncertain significance |
| rs139197209 | 3:53,124,386 | C/T | — | benign |
| rs549553484 | 3:53,124,648 | T/G | — | uncertain significance |
| rs554646046 | 3:53,124,795 | A/T | — | uncertain significance |
| rs1700966613 | 3:53,124,802 | C/G | — | uncertain significance |
| rs73840205 | 3:53,124,910 | C/T | — | benign |
| rs1442056912 | 3:53,124,947 | T/C | — | uncertain significance |
| rs1159558402 | 3:53,124,951 | T/C | — | uncertain significance |
| rs557106378 | 3:53,125,039 | G/C | — | uncertain significance |
| rs886058720 | 3:53,125,058 | T/C | — | uncertain significance |
| rs148552528 | 3:53,125,120 | A/T | — | likely benign |
| rs915542340 | 3:53,125,270 | C/T | — | uncertain significance |
| rs115646874 | 3:53,125,274 | G/A | — | uncertain significance |
| rs7645611 | 3:53,125,297 | G/C | — | benign |
| rs886058721 | 3:53,125,310 | G/A | — | uncertain significance |
| rs62255926 | 3:53,125,429 | A/T | — | benign |
| rs2564922 | 3:53,125,469 | G/A | — | benign |
| rs1700985095 | 3:53,125,478 | G/T | — | uncertain significance |
| rs1476531096 | 3:53,125,496 | C/T | — | uncertain significance |
| rs886058722 | 3:53,125,514 | C/A | — | uncertain significance |
| rs2564921 | 3:53,125,585 | T/C | 3 prime UTR variant | benign |
| rs1050584536 | 3:53,125,624 | G/A | — | uncertain significance |
| rs565490076 | 3:53,125,677 | A/G | — | uncertain significance |
| rs534506262 | 3:53,125,679 | A/G | — | likely benign |
| rs548020075 | 3:53,125,735 | C/G | — | uncertain significance |
| rs550906487 | 3:53,125,737 | C/G | — | uncertain significance |
| rs886058723 | 3:53,125,766 | G/A | — | uncertain significance |
| rs72965388 | 3:53,125,773 | G/A | — | benign |
| rs570767824 | 3:53,125,792 | C/T | — | uncertain significance |
| rs1474404507 | 3:53,125,803 | G/C | — | uncertain significance |
| rs553703050 | 3:53,125,835 | T/A | — | uncertain significance |
| rs11242 | 3:53,125,922 | T/C | — | benign |
| rs757851297 | 3:53,125,937 | G/C | — | likely benign |
| rs781398694 | 3:53,125,938 | C/T | — | uncertain significance |
| rs376867132 | 3:53,125,939 | G/A | — | likely benign |
| rs372235619 | 3:53,125,946 | C/T | — | likely benign |
| rs747610673 | 3:53,125,947 | A/G | — | uncertain significance |
| rs2470936050 | 3:53,125,948 | C/A | — | uncertain significance |
| rs1701001018 | 3:53,125,950 | C/A | — | uncertain significance |
| rs1701001105 | 3:53,125,955 | C/G | — | uncertain significance |
| rs2470936087 | 3:53,125,963 | T/C | — | uncertain significance |
| rs2107069217 | 3:53,125,964 | G/A | — | likely benign |
| rs772772816 | 3:53,125,975 | T/A | — | uncertain significance |
| rs369800703 | 3:53,125,985 | C/G | — | uncertain significance |
| rs1701002499 | 3:53,125,990 | T/C | — | uncertain significance |
| rs1306859696 | 3:53,125,999 | C/A | — | uncertain significance |
| rs927269749 | 3:53,126,005 | C/T | — | uncertain significance |
| rs142016662 | 3:53,126,016 | C/T | — | uncertain significance |
| rs2470936227 | 3:53,126,024 | G/C | — | uncertain significance |
| rs1701003868 | 3:53,126,029 | C/T | — | uncertain significance |
| rs763305146 | 3:53,126,030 | C/T | — | likely benign |
Showing 100 of 484 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.