PITPNC1
phosphatidylinositol transfer protein cytoplasmic 1
Summary
This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8866 | 17:65,373,979 | C/G | regulatory region variant | — |
| rs4791291 | 17:65,384,459 | T/C | intron variant | — |
| rs7224000 | 17:65,410,934 | A/G | intron variant | — |
| rs2017854 | 17:65,488,021 | G/T | — | — |
| rs1419111593 | 17:65,548,419 | G/A | — | uncertain significance |
| rs35199232 | 17:65,579,687 | G/C | intron variant | — |
| rs28680305 | 17:65,579,728 | G/C | — | — |
| rs573554652 | 17:65,592,729 | C/T | — | — |
| rs2642054 | 17:65,620,820 | A/T | — | — |
| rs777936488 | 17:65,628,319 | G/A | — | uncertain significance |
| rs1389719881 | 17:65,630,468 | G/A | — | — |
| rs371727466 | 17:65,665,670 | G/C | — | uncertain significance |
| rs2509915662 | 17:65,671,652 | T/G | — | uncertain significance |
| rs2509915666 | 17:65,671,653 | G/T | — | uncertain significance |
| rs780623255 | 17:65,688,720 | C/G | — | uncertain significance |
| rs367949871 | 17:65,688,753 | G/A | — | uncertain significance |
| rs200786021 | 17:65,688,811 | G/A | — | uncertain significance |
| rs778429473 | 17:65,688,813 | A/G | — | uncertain significance |
| rs928401529 | 17:65,688,873 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.