ATG14
autophagy related 14
Summary
Enables GTPase binding activity; phosphatidylinositol 3-kinase inhibitor activity; and protein-membrane adaptor activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of or within endosome to lysosome transport. Located in autophagosome and phagophore assembly site membrane. Is extrinsic component of omegasome membrane and extrinsic component of phagophore assembly site membrane. Part of phosphatidylinositol 3-kinase complex, class III. Is active in phagophore assembly site. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76480089 | 14:55,832,612 | A/G | downstream gene variant | — |
| rs2502670067 | 14:55,836,381 | C/G | — | uncertain significance |
| rs144919020 | 14:55,836,420 | C/T | — | uncertain significance |
| rs753707798 | 14:55,836,548 | C/T | — | likely benign |
| rs778057786 | 14:55,836,570 | A/G | — | uncertain significance |
| rs772234940 | 14:55,836,596 | A/G | — | uncertain significance |
| rs368400738 | 14:55,836,609 | C/G | — | uncertain significance |
| rs562870380 | 14:55,836,643 | C/A | — | uncertain significance |
| rs76997592 | 14:55,838,826 | T/A | — | — |
| rs373428312 | 14:55,844,574 | T/G | — | uncertain significance |
| rs971318943 | 14:55,844,727 | T/A | — | uncertain significance |
| rs111594243 | 14:55,846,071 | T/C | intron variant | — |
| rs144891475 | 14:55,847,337 | G/A | — | likely benign |
| rs554737670 | 14:55,847,369 | G/A | — | uncertain significance |
| rs1221046549 | 14:55,847,376 | T/C | — | uncertain significance |
| rs1259820298 | 14:55,847,391 | G/A | — | uncertain significance |
| rs1018126306 | 14:55,847,404 | C/T | — | uncertain significance |
| rs1478699428 | 14:55,847,406 | T/C | — | uncertain significance |
| rs1301541268 | 14:55,848,715 | C/A | — | uncertain significance |
| rs1458044423 | 14:55,848,721 | T/C | — | uncertain significance |
| rs367606602 | 14:55,848,874 | G/C | — | uncertain significance |
| rs79554957 | 14:55,851,690 | A/G | intron variant | — |
| rs756049156 | 14:55,852,599 | C/T | — | uncertain significance |
| rs376546755 | 14:55,852,658 | C/T | — | uncertain significance |
| rs2502708960 | 14:55,852,673 | C/A | — | uncertain significance |
| rs2502708991 | 14:55,852,683 | T/C | — | uncertain significance |
| rs202044690 | 14:55,857,649 | C/T | — | uncertain significance |
| rs530144209 | 14:55,859,912 | A/G | — | — |
| rs767134827 | 14:55,862,668 | G/A | — | uncertain significance |
| rs750811442 | 14:55,862,698 | A/G | — | uncertain significance |
| rs182651419 | 14:55,864,005 | G/A | upstream gene variant | — |
| rs375340324 | 14:55,864,114 | C/A | — | uncertain significance |
| rs369434137 | 14:55,864,126 | C/T | — | uncertain significance |
| rs1815581 | 14:55,867,369 | G/A | — | — |
| rs746474554 | 14:55,878,327 | G/C | — | uncertain significance |
| rs2502756427 | 14:55,878,434 | A/G | — | uncertain significance |
| rs747495347 | 14:55,878,468 | C/T | — | uncertain significance |
| rs1298880020 | 14:55,878,489 | C/A | — | uncertain significance |
| rs377313536 | 14:55,878,519 | C/G | — | uncertain significance |
| rs916896842 | 14:55,878,526 | A/C | — | uncertain significance |
| rs1009647 | 14:55,880,047 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.