ALDH1L1
aldehyde dehydrogenase 1 family member L1
Summary
The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Known Variants85 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142086991 | 3:125,824,595 | T/C | — | uncertain significance |
| rs200290145 | 3:125,824,614 | C/T | — | uncertain significance |
| rs755656855 | 3:125,824,637 | G/A | — | uncertain significance |
| rs72965956 | 3:125,824,719 | C/A | — | benign |
| rs141656827 | 3:125,824,755 | C/T | — | uncertain significance |
| rs181000306 | 3:125,825,978 | C/T | — | benign |
| rs2472502886 | 3:125,825,988 | C/T | — | uncertain significance |
| rs1127717 | 3:125,826,059 | T/C | missense variant | — |
| rs1333230358 | 3:125,828,793 | G/A | — | uncertain significance |
| rs76009701 | 3:125,828,800 | C/T | — | benign |
| rs201903896 | 3:125,828,823 | T/C | — | uncertain significance |
| rs753643469 | 3:125,828,939 | C/T | — | uncertain significance |
| rs762821544 | 3:125,831,650 | A/G | — | uncertain significance |
| rs778462119 | 3:125,831,701 | T/A | — | uncertain significance |
| rs2472539793 | 3:125,833,438 | T/C | — | uncertain significance |
| rs368153188 | 3:125,833,483 | C/T | — | uncertain significance |
| rs749534619 | 3:125,833,492 | T/C | — | uncertain significance |
| rs555712941 | 3:125,844,467 | G/T | — | uncertain significance |
| rs748672138 | 3:125,844,473 | T/G | — | uncertain significance |
| rs762898245 | 3:125,844,509 | T/C | — | uncertain significance |
| rs774238965 | 3:125,844,520 | A/G | — | uncertain significance |
| rs1266949739 | 3:125,850,258 | C/T | — | uncertain significance |
| rs2472611911 | 3:125,850,264 | G/A | — | uncertain significance |
| rs148376331 | 3:125,854,390 | C/T | — | uncertain significance |
| rs779634191 | 3:125,854,394 | C/A | — | uncertain significance |
| rs745728180 | 3:125,854,406 | C/T | — | uncertain significance |
| rs200654935 | 3:125,854,424 | G/A | — | uncertain significance |
| rs139437435 | 3:125,855,616 | G/A | — | benign |
| rs1016198654 | 3:125,855,630 | T/C | — | uncertain significance |
| rs1475562655 | 3:125,855,633 | C/T | — | uncertain significance |
| rs202198892 | 3:125,855,671 | C/G | — | uncertain significance |
| rs768929419 | 3:125,855,695 | C/A | — | uncertain significance |
| rs2472633013 | 3:125,855,701 | G/A | — | uncertain significance |
| rs371183566 | 3:125,855,705 | G/A | — | uncertain significance |
| rs140716591 | 3:125,855,717 | C/A | — | uncertain significance |
| rs116683776 | 3:125,855,726 | C/T | — | benign |
| rs763912713 | 3:125,856,673 | C/T | — | uncertain significance |
| rs144521878 | 3:125,856,688 | C/G | — | benign |
| rs892351922 | 3:125,856,693 | C/T | — | uncertain significance |
| rs2305230 | 3:125,856,695 | C/A | synonymous variant | — |
| rs34720838 | 3:125,856,728 | A/G | — | benign |
| rs547422607 | 3:125,856,774 | T/A | — | uncertain significance |
| rs62265227 | 3:125,861,674 | C/T | intron variant | — |
| rs756625296 | 3:125,865,690 | A/C | — | uncertain significance |
| rs144099397 | 3:125,865,723 | G/A | — | uncertain significance |
| rs772844244 | 3:125,865,735 | T/C | — | uncertain significance |
| rs143851048 | 3:125,869,354 | C/A | — | uncertain significance |
| rs775869355 | 3:125,872,330 | A/T | — | uncertain significance |
| rs145393229 | 3:125,872,366 | G/T | — | uncertain significance |
| rs753739852 | 3:125,872,367 | C/T | — | uncertain significance |
| rs114624556 | 3:125,872,416 | T/C | — | likely benign |
| rs564071539 | 3:125,873,459 | T/C | — | uncertain significance |
| rs202185176 | 3:125,873,491 | G/A | — | benign |
| rs781086978 | 3:125,874,279 | G/A | — | uncertain significance |
| rs766078965 | 3:125,874,333 | C/G | — | uncertain significance |
| rs201048111 | 3:125,874,346 | C/T | — | uncertain significance |
| rs1559961172 | 3:125,876,194 | T/C | — | uncertain significance |
| rs756732552 | 3:125,876,199 | C/T | — | uncertain significance |
| rs1576470546 | 3:125,876,237 | G/A | — | likely benign |
| rs759726209 | 3:125,876,263 | C/T | — | uncertain significance |
| rs150172243 | 3:125,876,273 | C/A | — | benign |
| rs138630452 | 3:125,876,285 | G/T | — | likely benign |
| rs1189747599 | 3:125,876,299 | C/T | — | uncertain significance |
| rs1409776824 | 3:125,876,305 | C/T | — | uncertain significance |
| rs200549529 | 3:125,877,260 | G/A | — | uncertain significance |
| rs770401461 | 3:125,877,266 | C/T | — | uncertain significance |
| rs149080804 | 3:125,877,290 | G/A | missense variant | — |
| rs139977408 | 3:125,877,314 | C/T | — | likely benign |
| rs139827128 | 3:125,877,376 | G/A | — | likely benign |
| rs147685786 | 3:125,877,432 | G/A | — | uncertain significance |
| rs769043466 | 3:125,877,438 | G/A | — | uncertain significance |
| rs1419661090 | 3:125,877,466 | C/A | — | uncertain significance |
| rs72967763 | 3:125,877,491 | C/T | — | benign |
| rs143122118 | 3:125,879,755 | C/T | — | benign |
| rs889438282 | 3:125,879,794 | A/G | — | uncertain significance |
| rs760165054 | 3:125,879,799 | C/A | — | uncertain significance |
| rs114542799 | 3:125,900,953 | G/A | upstream gene variant | — |
| rs9873704 | 3:125,901,902 | G/C | upstream gene variant | — |
| rs1107366 | 3:125,904,165 | A/G | upstream gene variant | — |
| rs2364368 | 3:125,905,080 | A/T | intron variant | — |
| rs10934753 | 3:125,906,179 | G/T | — | — |
| rs10934754 | 3:125,906,237 | T/C | intron variant | — |
| rs35331719 | 3:125,907,392 | C/A | intron variant | — |
| rs9862438 | 3:125,910,381 | C/T | intron variant | — |
| rs7622374 | 3:125,915,205 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.