GPLD1
glycosylphosphatidylinositol specific phospholipase D1
Summary
Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72833071 | 6:24,426,889 | A/C | downstream gene variant | — |
| rs755235873 | 6:24,429,295 | C/T | — | uncertain significance |
| rs199980577 | 6:24,429,297 | G/C | — | uncertain significance |
| rs549807119 | 6:24,432,449 | T/C | — | — |
| rs1762461141 | 6:24,433,454 | C/G | — | uncertain significance |
| rs201417428 | 6:24,436,850 | A/G | — | uncertain significance |
| rs376681886 | 6:24,436,851 | T/C | — | uncertain significance |
| rs760013529 | 6:24,436,868 | T/C | — | uncertain significance |
| rs143314495 | 6:24,436,910 | A/G | missense variant | — |
| rs7752603 | 6:24,437,108 | G/A | — | — |
| rs1762603654 | 6:24,437,355 | T/C | — | uncertain significance |
| rs553287827 | 6:24,437,398 | G/A | — | uncertain significance |
| rs372822054 | 6:24,437,406 | C/A | — | uncertain significance |
| rs779868030 | 6:24,437,460 | C/T | — | uncertain significance |
| rs1139475 | 6:24,437,488 | C/T | — | likely benign |
| rs9467160 | 6:24,441,746 | G/A | regulatory region variant | — |
| rs1376928737 | 6:24,445,848 | G/A | — | uncertain significance |
| rs762662225 | 6:24,445,986 | C/A | — | likely benign |
| rs201973866 | 6:24,446,010 | C/G | — | uncertain significance |
| rs566324510 | 6:24,446,036 | C/T | — | uncertain significance |
| rs768794956 | 6:24,446,044 | T/G | — | likely benign |
| rs563328076 | 6:24,446,899 | T/G | — | — |
| rs768183647 | 6:24,447,109 | T/G | — | uncertain significance |
| rs760535652 | 6:24,447,135 | A/C | — | uncertain significance |
| rs148782320 | 6:24,447,202 | G/C | — | uncertain significance |
| rs574969946 | 6:24,448,146 | A/G | — | uncertain significance |
| rs202217765 | 6:24,448,179 | G/C | — | uncertain significance |
| rs753378919 | 6:24,450,043 | C/T | — | uncertain significance |
| rs374576707 | 6:24,450,085 | T/C | — | uncertain significance |
| rs149093201 | 6:24,450,108 | G/A | missense variant | — |
| rs143139462 | 6:24,450,117 | C/T | — | uncertain significance |
| rs377686305 | 6:24,454,266 | G/A | — | uncertain significance |
| rs987394557 | 6:24,454,278 | C/T | — | uncertain significance |
| rs775526340 | 6:24,454,383 | C/T | — | uncertain significance |
| rs764108052 | 6:24,454,394 | T/C | — | uncertain significance |
| rs143280814 | 6:24,454,425 | T/C | — | uncertain significance |
| rs192172621 | 6:24,455,184 | C/T | intron variant | — |
| rs189703807 | 6:24,455,412 | C/T | intron variant | — |
| rs1062498 | 6:24,456,781 | C/T | — | likely benign |
| rs765841873 | 6:24,456,846 | T/C | — | uncertain significance |
| rs116287860 | 6:24,456,907 | A/C | intron variant | — |
| rs140895057 | 6:24,460,508 | G/A | missense variant | — |
| rs188633160 | 6:24,462,962 | G/T | — | uncertain significance |
| rs772564077 | 6:24,462,980 | C/T | — | uncertain significance |
| rs1763628932 | 6:24,466,939 | G/T | — | uncertain significance |
| rs2532715476 | 6:24,466,951 | T/C | — | uncertain significance |
| rs759598032 | 6:24,466,972 | C/T | — | uncertain significance |
| rs1763632483 | 6:24,467,029 | T/C | — | uncertain significance |
| rs747868544 | 6:24,467,157 | T/C | — | uncertain significance |
| rs1325796323 | 6:24,467,486 | C/A | — | uncertain significance |
| rs9461022 | 6:24,469,846 | G/T | — | — |
| rs28709106 | 6:24,469,912 | C/T | — | — |
| rs192684352 | 6:24,469,996 | T/C | intron variant | — |
| rs554397888 | 6:24,471,333 | T/C | — | — |
| rs368216690 | 6:24,472,813 | C/T | — | likely benign |
| rs62400471 | 6:24,472,814 | G/A | missense variant | — |
| rs146221974 | 6:24,473,861 | G/A | missense variant | — |
| rs2532746020 | 6:24,475,386 | A/G | — | uncertain significance |
| rs752060847 | 6:24,475,455 | G/A | — | uncertain significance |
| rs61754637 | 6:24,476,431 | T/C | missense variant | — |
| rs61754636 | 6:24,476,437 | C/T | missense variant | — |
| rs958962869 | 6:24,476,476 | T/C | — | uncertain significance |
| rs1246919623 | 6:24,476,489 | A/G | — | uncertain significance |
| rs2817207 | 6:24,479,524 | G/A | intron variant | — |
| rs1139461 | 6:24,480,121 | T/C | — | uncertain significance |
| rs1053131047 | 6:24,480,151 | T/C | — | uncertain significance |
| rs775147748 | 6:24,480,165 | G/A | — | uncertain significance |
| rs6911965 | 6:24,480,295 | T/C | intron variant | — |
| rs750221264 | 6:24,486,320 | G/A | — | uncertain significance |
| rs753872655 | 6:24,489,651 | A/C | — | uncertain significance |
| rs1139456 | 6:24,489,656 | T/C | — | likely benign |
| rs189263035 | 6:24,489,960 | G/C | upstream gene variant | — |
| rs2744571 | 6:24,490,146 | T/C | regulatory region variant | — |
| rs1883415 | 6:24,491,475 | A/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.