PITPNA
phosphatidylinositol transfer protein alpha
Summary
This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200738801 | 17:1,437,427 | C/T | — | uncertain significance |
| rs1182589259 | 17:1,438,510 | C/A | — | uncertain significance |
| rs2543990639 | 17:1,438,555 | T/C | — | uncertain significance |
| rs376835883 | 17:1,438,574 | T/A | — | uncertain significance |
| rs753764282 | 17:1,442,183 | G/C | — | uncertain significance |
| rs758547209 | 17:1,442,204 | C/T | — | likely benign |
| rs140948272 | 17:1,460,896 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.