PEBP4
phosphatidylethanolamine binding protein 4
Summary
The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3853 | 8:22,570,844 | G/A | 3 prime UTR variant | — |
| rs947698429 | 8:22,570,918 | T/G | — | uncertain significance |
| rs930534797 | 8:22,571,038 | T/C | — | uncertain significance |
| rs149975752 | 8:22,581,488 | G/A | intron variant | — |
| rs370587289 | 8:22,582,358 | C/T | — | uncertain significance |
| rs781052387 | 8:22,582,413 | C/T | — | uncertain significance |
| rs200954559 | 8:22,582,416 | A/G | — | uncertain significance |
| rs1325634144 | 8:22,582,437 | C/T | — | uncertain significance |
| rs201641159 | 8:22,582,461 | C/G | — | likely benign |
| rs2486501538 | 8:22,584,691 | A/G | — | uncertain significance |
| rs374657831 | 8:22,584,703 | C/G | — | uncertain significance |
| rs373250934 | 8:22,584,729 | G/C | — | uncertain significance |
| rs117101060 | 8:22,595,054 | C/T | regulatory region variant | — |
| rs11998649 | 8:22,619,551 | A/T | — | — |
| rs12155789 | 8:22,643,707 | A/G | intron variant | — |
| rs141908694 | 8:22,665,427 | C/T | intron variant | — |
| rs371787335 | 8:22,675,200 | C/T | — | uncertain significance |
| rs4284045 | 8:22,711,807 | G/A | — | — |
| rs6557600 | 8:22,763,248 | A/C | — | — |
| rs2486773671 | 8:22,777,711 | G/A | — | uncertain significance |
| rs201313384 | 8:22,777,722 | A/G | — | uncertain significance |
| rs2486773698 | 8:22,777,723 | T/C | — | uncertain significance |
| rs1164909861 | 8:22,777,744 | T/A | — | uncertain significance |
| rs1187748375 | 8:22,777,764 | C/G | — | uncertain significance |
| rs533132922 | 8:22,777,765 | A/G | — | uncertain significance |
| rs538633446 | 8:22,785,113 | C/T | — | uncertain significance |
| rs202161701 | 8:22,785,142 | G/T | — | uncertain significance |
| rs1563264862 | 8:22,785,158 | C/T | — | uncertain significance |
| rs772048457 | 8:22,785,202 | G/A | — | uncertain significance |
| rs13275018 | 8:22,787,050 | G/A | upstream gene variant | — |
| rs6557602 | 8:22,789,924 | A/C | — | — |
| rs3857977 | 8:22,795,258 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.