PIGK
phosphatidylinositol glycan anchor biosynthesis class K
Summary
This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1048575 | 1:77,558,057 | G/C | 3 prime UTR variant | benign |
| rs1653320341 | 1:77,558,066 | A/G | — | uncertain significance |
| rs1170307790 | 1:77,558,163 | T/C | — | uncertain significance |
| rs77560273 | 1:77,574,751 | T/C | intron variant | — |
| rs769686064 | 1:77,587,965 | G/A | — | uncertain significance |
| rs775339339 | 1:77,587,969 | T/C | — | uncertain significance |
| rs34266525 | 1:77,619,958 | T/C | intron variant | — |
| rs772971888 | 1:77,620,143 | A/G | — | uncertain significance |
| rs1468252637 | 1:77,620,175 | C/A | — | uncertain significance |
| rs1395107568 | 1:77,620,182 | G/T | — | uncertain significance |
| rs776294990 | 1:77,620,279 | C/T | — | uncertain significance |
| rs1654968072 | 1:77,620,297 | A/G | — | pathogenic |
| rs373074286 | 1:77,620,300 | C/A | — | uncertain significance |
| rs1321482128 | 1:77,626,990 | A/T | — | uncertain significance |
| rs200133111 | 1:77,627,018 | C/T | — | uncertain significance |
| rs751082508 | 1:77,627,056 | A/T | — | uncertain significance |
| rs839825 | 1:77,627,096 | G/A | — | benign |
| rs35968680 | 1:77,627,282 | G/A | — | likely benign |
| rs2523920341 | 1:77,627,363 | G/A | — | likely benign |
| rs373393953 | 1:77,627,370 | T/A | — | conflicting classifications of pathogenicity |
| rs747692385 | 1:77,627,371 | C/G | — | pathogenic |
| rs1325901837 | 1:77,627,390 | A/T | — | uncertain significance |
| rs780683566 | 1:77,629,564 | G/A | — | uncertain significance |
| rs760853288 | 1:77,632,410 | T/C | — | uncertain significance |
| rs1164656857 | 1:77,632,412 | T/G | — | pathogenic |
| rs188063187 | 1:77,632,448 | C/T | — | uncertain significance |
| rs374050300 | 1:77,632,494 | G/A | — | uncertain significance |
| rs2523930919 | 1:77,632,503 | T/A | — | uncertain significance |
| rs1779199 | 1:77,634,948 | G/A | — | benign |
| rs779607756 | 1:77,634,985 | A/G | — | uncertain significance |
| rs772948495 | 1:77,635,060 | G/A | — | pathogenic |
| rs180772831 | 1:77,664,422 | C/T | downstream gene variant | — |
| rs17688479 | 1:77,668,569 | G/C | — | — |
| rs148725038 | 1:77,672,330 | A/G | — | likely benign |
| rs1656295216 | 1:77,672,406 | G/A | — | pathogenic |
| rs1432605344 | 1:77,676,143 | T/C | — | uncertain significance |
| rs1656391998 | 1:77,676,171 | G/A | — | pathogenic |
| rs1656392054 | 1:77,676,175 | C/G | — | pathogenic |
| rs377457719 | 1:77,685,015 | C/A | — | likely benign |
| rs1290560297 | 1:77,685,026 | G/A | — | uncertain significance |
| rs12723684 | 1:77,685,042 | T/C | — | benign |
| rs138493120 | 1:77,685,050 | A/G | — | uncertain significance |
| rs775603566 | 1:77,685,056 | G/A | — | uncertain significance |
| rs559718599 | 1:77,685,058 | A/G | — | likely benign |
| rs141881551 | 1:77,685,067 | G/A | — | likely benign |
| rs146101175 | 1:77,685,089 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.