BASP1
brain abundant membrane attached signal protein 1
Summary
This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2962370 | 5:17,215,444 | G/T | — | — |
| rs139886054 | 5:17,234,506 | A/G | intron variant | — |
| rs167237 | 5:17,269,362 | T/A | intron variant | — |
| rs73756114 | 5:17,275,364 | T/C | — | benign |
| rs145045269 | 5:17,275,446 | G/C | — | uncertain significance |
| rs1197841892 | 5:17,275,497 | C/T | — | uncertain significance |
| rs369558531 | 5:17,275,564 | A/C | — | uncertain significance |
| rs372354708 | 5:17,275,565 | G/C | — | uncertain significance |
| rs1187536060 | 5:17,275,602 | G/A | — | uncertain significance |
| rs1386047183 | 5:17,275,623 | C/T | — | uncertain significance |
| rs1196531245 | 5:17,275,693 | C/G | — | uncertain significance |
| rs1442362061 | 5:17,275,704 | G/A | — | uncertain significance |
| rs1740631023 | 5:17,275,722 | G/A | — | uncertain significance |
| rs1202724137 | 5:17,275,725 | G/A | — | uncertain significance |
| rs1740631290 | 5:17,275,728 | C/T | — | uncertain significance |
| rs755632551 | 5:17,275,746 | C/T | — | uncertain significance |
| rs1317728877 | 5:17,275,771 | A/G | — | uncertain significance |
| rs929828758 | 5:17,275,789 | C/T | — | uncertain significance |
| rs769886249 | 5:17,275,800 | G/A | — | uncertain significance |
| rs375359204 | 5:17,275,866 | C/T | — | uncertain significance |
| rs764889875 | 5:17,275,930 | C/T | — | uncertain significance |
| rs765012665 | 5:17,275,992 | G/C | — | uncertain significance |
| rs1554029393 | 5:17,275,998 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.