PLSCR1
phospholipid scramblase 1
Summary
This gene encodes a phospholipid scramblase family member. The encoded protein is involved in disruption of the asymmetrical distribution of phospholipids between the inner and outer leaflets of the plasma membrane, resulting in externalization of phosphatidylserine. This cell membrane disruption plays an important role in the blood coagulation cascade as well as macrophage clearing of apoptotic cells. The encoded protein has additionally been implicated in gene regulation and interferon-induced antiviral responses. [provided by RefSeq, May 2022]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2473538921 | 3:146,233,863 | C/T | — | uncertain significance |
| rs145978415 | 3:146,234,814 | C/T | — | uncertain significance |
| rs2473543082 | 3:146,234,846 | A/C | — | uncertain significance |
| rs71302408 | 3:146,238,176 | T/C | intron variant | — |
| rs343316 | 3:146,238,938 | A/G | intron variant | — |
| rs769123895 | 3:146,239,350 | C/A | — | uncertain significance |
| rs373452127 | 3:146,239,436 | G/T | — | uncertain significance |
| rs745943253 | 3:146,239,691 | C/A | — | uncertain significance |
| rs189471842 | 3:146,239,781 | C/T | — | likely benign |
| rs2473580839 | 3:146,246,462 | G/A | — | uncertain significance |
| rs2473581225 | 3:146,246,538 | C/T | — | uncertain significance |
| rs145430313 | 3:146,246,559 | C/T | — | uncertain significance |
| rs145254770 | 3:146,246,567 | G/C | — | uncertain significance |
| rs761394661 | 3:146,251,271 | G/A | — | uncertain significance |
| rs140396864 | 3:146,251,299 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.