EDN1
endothelin 1
Summary
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs555352209 | 6:12,276,884 | C/T | — | — |
| rs1800541 | 6:12,289,219 | T/G | regulatory region variant | — |
| rs3087459 | 6:12,289,639 | A/C | regulatory region variant | — |
| rs377019316 | 6:12,290,908 | C/A | — | uncertain significance |
| rs10478695 | 6:12,290,934 | C/T | — | likely benign |
| rs2070698 | 6:12,291,112 | T/C | intron variant | benign |
| rs1800542 | 6:12,292,528 | G/A | regulatory region variant | benign |
| rs760951012 | 6:12,292,587 | T/G | — | likely benign |
| rs202087445 | 6:12,292,598 | C/A | — | uncertain significance |
| rs150035515 | 6:12,292,599 | G/T | — | likely benign |
| rs183694577 | 6:12,292,615 | G/A | — | benign |
| rs1383893344 | 6:12,292,646 | G/T | — | uncertain significance |
| rs148565651 | 6:12,292,650 | C/T | — | benign |
| rs753421498 | 6:12,292,677 | G/A | — | likely benign |
| rs1561693994 | 6:12,292,693 | G/C | — | uncertain significance |
| rs1064796796 | 6:12,292,697 | G/A | — | uncertain significance |
| rs587777233 | 6:12,292,700 | T/A | missense variant | pathogenic |
| rs587777232 | 6:12,292,739 | C/A | missense variant | pathogenic |
| rs755064642 | 6:12,292,740 | C/T | — | likely benign |
| rs2070699 | 6:12,292,772 | G/T | regulatory region variant | benign |
| rs1476046 | 6:12,293,221 | G/A | intron variant | — |
| rs1800543 | 6:12,294,137 | T/C | intron variant | benign |
| rs147381256 | 6:12,294,178 | G/A | — | likely benign |
| rs376892399 | 6:12,294,186 | G/A | — | likely benign |
| rs587777234 | 6:12,294,189 | T/G | stop gained | pathogenic |
| rs587777231 | 6:12,294,211 | A/G | missense variant | pathogenic |
| rs5369 | 6:12,294,258 | A/G | synonymous variant | benign |
| rs917166185 | 6:12,294,262 | A/G | — | uncertain significance |
| rs150128166 | 6:12,294,294 | G/C | — | uncertain significance |
| rs1762761315 | 6:12,294,316 | G/A | — | uncertain significance |
| rs568430735 | 6:12,294,508 | T/C | — | uncertain significance |
| rs768294608 | 6:12,294,568 | G/A | — | uncertain significance |
| rs145546137 | 6:12,294,584 | A/C | — | conflicting classifications of pathogenicity |
| rs756265142 | 6:12,294,591 | G/A | — | uncertain significance |
| rs149316725 | 6:12,294,621 | C/A | — | uncertain significance |
| rs190219262 | 6:12,294,652 | A/G | — | benign |
| rs2071942 | 6:12,294,993 | G/A | intron variant | — |
| rs1762780815 | 6:12,295,074 | T/C | — | — |
| rs10478723 | 6:12,295,461 | G/A | intron variant | — |
| rs6912834 | 6:12,295,535 | A/G | intron variant | — |
| rs1630736 | 6:12,295,987 | C/T | intron variant | benign |
| rs6917941 | 6:12,296,003 | A/G | — | benign |
| rs1158631885 | 6:12,296,195 | G/T | — | uncertain significance |
| rs6413478 | 6:12,296,217 | G/A | — | uncertain significance |
| rs5370 | 6:12,296,255 | G/T | missense variant | benign |
| rs370693989 | 6:12,296,268 | C/T | — | uncertain significance |
| rs143255118 | 6:12,296,269 | G/A | — | conflicting classifications of pathogenicity |
| rs2481682475 | 6:12,296,278 | C/G | — | uncertain significance |
| rs9296344 | 6:12,297,028 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.