PIGZ
phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group)
Summary
The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1383619669 | 3:196,674,086 | C/T | — | uncertain significance |
| rs774049572 | 3:196,674,165 | T/C | — | uncertain significance |
| rs368037497 | 3:196,674,305 | C/G | — | uncertain significance |
| rs765011561 | 3:196,674,312 | C/G | — | uncertain significance |
| rs1716943434 | 3:196,674,315 | C/A | — | uncertain significance |
| rs2474167077 | 3:196,674,326 | G/A | — | uncertain significance |
| rs374249387 | 3:196,674,330 | C/T | — | uncertain significance |
| rs1448547829 | 3:196,674,341 | G/A | — | uncertain significance |
| rs928116200 | 3:196,674,348 | G/A | — | uncertain significance |
| rs1716947089 | 3:196,674,357 | G/A | — | uncertain significance |
| rs147586057 | 3:196,674,364 | G/A | — | benign |
| rs539732732 | 3:196,674,486 | C/T | — | uncertain significance |
| rs1429021286 | 3:196,674,492 | G/C | — | uncertain significance |
| rs766168640 | 3:196,674,496 | G/A | — | likely benign |
| rs1288923614 | 3:196,674,501 | C/T | — | uncertain significance |
| rs766979358 | 3:196,674,507 | C/T | — | uncertain significance |
| rs371663119 | 3:196,674,548 | G/A | — | uncertain significance |
| rs199641385 | 3:196,674,599 | C/T | — | uncertain significance |
| rs753256209 | 3:196,674,628 | C/T | — | likely benign |
| rs775284528 | 3:196,674,662 | T/C | — | uncertain significance |
| rs150517093 | 3:196,674,690 | G/A | — | likely benign |
| rs746154885 | 3:196,674,713 | C/T | — | uncertain significance |
| rs369999009 | 3:196,674,738 | C/T | — | uncertain significance |
| rs200276317 | 3:196,674,757 | C/T | — | likely benign |
| rs780172338 | 3:196,674,786 | C/A | — | uncertain significance |
| rs746769876 | 3:196,674,789 | C/T | — | uncertain significance |
| rs764433068 | 3:196,674,828 | G/A | — | uncertain significance |
| rs935019504 | 3:196,674,830 | G/A | — | likely benign |
| rs1012490340 | 3:196,674,836 | G/A | — | uncertain significance |
| rs777872535 | 3:196,674,878 | A/C | — | uncertain significance |
| rs148546943 | 3:196,674,904 | G/T | — | uncertain significance |
| rs145629146 | 3:196,674,918 | C/T | — | uncertain significance |
| rs140946995 | 3:196,674,947 | G/A | — | uncertain significance |
| rs759251329 | 3:196,674,974 | G/A | — | conflicting classifications of pathogenicity |
| rs371247312 | 3:196,675,049 | A/G | — | uncertain significance |
| rs200831638 | 3:196,675,050 | G/T | — | uncertain significance |
| rs368530864 | 3:196,675,088 | C/T | — | uncertain significance |
| rs778446691 | 3:196,675,133 | C/A | — | uncertain significance |
| rs61729251 | 3:196,675,151 | G/A | — | likely benign |
| rs139393233 | 3:196,675,154 | G/A | — | uncertain significance |
| rs202160888 | 3:196,675,164 | G/A | — | likely benign |
| rs201975349 | 3:196,675,173 | C/T | — | likely benign |
| rs768516681 | 3:196,675,178 | G/C | — | uncertain significance |
| rs767111078 | 3:196,675,274 | G/A | — | uncertain significance |
| rs780641137 | 3:196,675,292 | A/C | — | uncertain significance |
| rs150001262 | 3:196,675,304 | C/T | — | conflicting classifications of pathogenicity |
| rs148705680 | 3:196,675,310 | G/A | — | uncertain significance |
| rs199521863 | 3:196,675,321 | C/T | — | likely benign |
| rs371620625 | 3:196,675,322 | G/A | — | uncertain significance |
| rs1717038549 | 3:196,675,325 | G/T | — | uncertain significance |
| rs777963388 | 3:196,675,347 | C/T | — | uncertain significance |
| rs144088027 | 3:196,675,397 | G/A | — | likely benign |
| rs565415578 | 3:196,675,423 | C/T | — | likely benign |
| rs199852771 | 3:196,675,424 | G/A | — | likely benign |
| rs17854327 | 3:196,675,468 | G/A | — | benign |
| rs753864157 | 3:196,675,497 | G/A | — | uncertain significance |
| rs750677163 | 3:196,675,529 | C/T | — | uncertain significance |
| rs374682106 | 3:196,675,532 | G/A | — | uncertain significance |
| rs751352710 | 3:196,678,739 | C/G | — | uncertain significance |
| rs150102059 | 3:196,678,803 | C/T | — | uncertain significance |
| rs1016281741 | 3:196,678,821 | G/C | — | uncertain significance |
| rs773785310 | 3:196,678,887 | A/G | — | uncertain significance |
| rs116768468 | 3:196,687,573 | A/C | intron variant | — |
| rs117638949 | 3:196,692,722 | T/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.