ESRP1
epithelial splicing regulatory protein 1
Summary
ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144813599 | 8:95,654,174 | A/G | — | benign |
| rs1817620727 | 8:95,654,181 | G/C | — | likely benign |
| rs1817622990 | 8:95,654,203 | T/C | — | uncertain significance |
| rs199788839 | 8:95,654,206 | T/C | — | uncertain significance |
| rs773900197 | 8:95,654,226 | G/C | — | uncertain significance |
| rs1817704177 | 8:95,655,555 | C/A | — | uncertain significance |
| rs137914711 | 8:95,655,572 | G/A | — | likely benign |
| rs72676907 | 8:95,655,596 | C/T | — | benign |
| rs76736071 | 8:95,658,407 | A/G | — | benign |
| rs1442230718 | 8:95,658,429 | T/A | — | uncertain significance |
| rs771325567 | 8:95,658,439 | G/A | — | uncertain significance |
| rs529786180 | 8:95,658,457 | G/A | — | uncertain significance |
| rs376259698 | 8:95,658,491 | C/A | — | uncertain significance |
| rs73263258 | 8:95,658,495 | G/A | — | likely benign |
| rs2488394760 | 8:95,658,503 | G/T | — | uncertain significance |
| rs939368108 | 8:95,658,505 | C/G | — | uncertain significance |
| rs60139063 | 8:95,658,526 | T/C | — | benign |
| rs776516284 | 8:95,674,518 | G/A | — | likely benign |
| rs200152547 | 8:95,674,530 | C/G | — | uncertain significance |
| rs201719652 | 8:95,674,555 | A/C | — | uncertain significance |
| rs140398032 | 8:95,674,608 | G/T | — | benign |
| rs753093658 | 8:95,674,757 | G/C | — | likely benign |
| rs201842226 | 8:95,676,956 | G/A | — | uncertain significance |
| rs776222018 | 8:95,676,977 | C/T | — | uncertain significance |
| rs1426171 | 8:95,677,132 | C/T | — | benign |
| rs753964744 | 8:95,677,168 | C/A | — | uncertain significance |
| rs1554577402 | 8:95,677,174 | C/G | — | pathogenic |
| rs368959736 | 8:95,677,197 | C/T | — | likely benign |
| rs1204240039 | 8:95,677,423 | T/A | — | likely benign |
| rs558995753 | 8:95,680,186 | A/G | — | benign |
| rs1549466 | 8:95,680,229 | C/T | — | benign |
| rs192126694 | 8:95,680,232 | C/T | — | likely benign |
| rs1459941663 | 8:95,680,305 | G/A | — | uncertain significance |
| rs2488475409 | 8:95,680,339 | C/G | — | uncertain significance |
| rs199645269 | 8:95,680,403 | G/A | — | likely benign |
| rs77276626 | 8:95,680,457 | C/T | — | benign |
| rs762817847 | 8:95,683,747 | C/T | — | uncertain significance |
| rs780215030 | 8:95,683,819 | A/G | — | uncertain significance |
| rs542614931 | 8:95,683,852 | G/A | — | uncertain significance |
| rs1320443775 | 8:95,683,864 | C/T | — | uncertain significance |
| rs772941059 | 8:95,683,865 | G/A | — | uncertain significance |
| rs139527251 | 8:95,683,875 | G/A | — | likely benign |
| rs77843571 | 8:95,686,577 | G/A | — | likely benign |
| rs764107599 | 8:95,690,435 | G/T | — | likely benign |
| rs1304361395 | 8:95,690,454 | T/C | — | uncertain significance |
| rs556237996 | 8:95,690,456 | T/G | — | uncertain significance |
| rs192085450 | 8:95,690,524 | G/A | — | uncertain significance |
| rs12677519 | 8:95,690,579 | T/C | — | benign |
| rs367813636 | 8:95,704,917 | G/A | — | likely benign |
| rs369829287 | 8:95,704,959 | C/G | — | uncertain significance |
| rs79024755 | 8:95,715,336 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.