SCUBE1
signal peptide, CUB domain and EGF like domain containing 1
Summary
This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1921116798 | 22:43,600,040 | C/T | — | uncertain significance |
| rs1921118681 | 22:43,600,076 | T/C | — | uncertain significance |
| rs776993356 | 22:43,600,140 | T/C | — | uncertain significance |
| rs374680689 | 22:43,600,430 | G/C | — | — |
| rs757515686 | 22:43,604,162 | G/A | — | uncertain significance |
| rs145644547 | 22:43,604,186 | C/T | — | uncertain significance |
| rs80138461 | 22:43,604,235 | G/A | — | benign |
| rs74582210 | 22:43,606,040 | C/T | — | benign |
| rs202101762 | 22:43,606,148 | T/C | — | uncertain significance |
| rs145262250 | 22:43,606,157 | C/T | — | uncertain significance |
| rs755133201 | 22:43,606,171 | G/T | — | uncertain significance |
| rs151158613 | 22:43,606,212 | G/A | — | benign |
| rs2518175565 | 22:43,606,238 | A/C | — | uncertain significance |
| rs138417338 | 22:43,607,012 | C/T | — | uncertain significance |
| rs376217649 | 22:43,607,030 | C/T | — | uncertain significance |
| rs370859318 | 22:43,607,062 | T/G | — | uncertain significance |
| rs570778063 | 22:43,608,446 | C/T | — | uncertain significance |
| rs1239232584 | 22:43,608,488 | C/T | — | uncertain significance |
| rs996139048 | 22:43,608,521 | C/T | — | uncertain significance |
| rs749952103 | 22:43,608,560 | T/C | — | uncertain significance |
| rs753580958 | 22:43,610,111 | C/T | — | uncertain significance |
| rs750565888 | 22:43,610,116 | C/T | — | uncertain significance |
| rs140754107 | 22:43,610,131 | C/T | — | likely benign |
| rs200599347 | 22:43,610,138 | C/T | — | uncertain significance |
| rs141362669 | 22:43,610,155 | G/A | — | uncertain significance |
| rs112239566 | 22:43,614,292 | G/A | — | benign |
| rs372406116 | 22:43,614,317 | G/A | — | uncertain significance |
| rs139119420 | 22:43,614,411 | C/T | — | uncertain significance |
| rs149906143 | 22:43,614,440 | C/T | — | uncertain significance |
| rs146442722 | 22:43,614,443 | A/G | — | uncertain significance |
| rs201677167 | 22:43,616,537 | G/T | — | uncertain significance |
| rs111740697 | 22:43,616,565 | G/C | — | benign |
| rs149213561 | 22:43,616,573 | C/T | — | uncertain significance |
| rs777612531 | 22:43,617,263 | G/A | — | uncertain significance |
| rs548608916 | 22:43,617,289 | G/A | — | uncertain significance |
| rs143856363 | 22:43,618,652 | C/T | — | uncertain significance |
| rs2518192720 | 22:43,618,679 | T/C | — | uncertain significance |
| rs762985267 | 22:43,618,682 | C/T | — | uncertain significance |
| rs148458324 | 22:43,618,695 | C/A | — | benign |
| rs1465932763 | 22:43,618,701 | C/A | — | uncertain significance |
| rs1381712927 | 22:43,618,713 | G/T | — | uncertain significance |
| rs143199330 | 22:43,619,117 | G/C | — | uncertain significance |
| rs762203765 | 22:43,619,186 | G/T | — | uncertain significance |
| rs563690047 | 22:43,619,201 | C/T | — | uncertain significance |
| rs370122689 | 22:43,619,202 | G/A | — | uncertain significance |
| rs1922171170 | 22:43,619,210 | C/T | — | uncertain significance |
| rs139007 | 22:43,621,533 | G/T | — | — |
| rs201262266 | 22:43,623,383 | C/T | — | uncertain significance |
| rs1387485228 | 22:43,623,409 | C/T | — | uncertain significance |
| rs747700672 | 22:43,623,428 | C/T | — | uncertain significance |
| rs147080927 | 22:43,623,429 | G/A | — | benign |
| rs373835525 | 22:43,623,434 | C/T | — | uncertain significance |
| rs764184054 | 22:43,623,455 | C/T | — | uncertain significance |
| rs747823454 | 22:43,623,495 | G/T | — | uncertain significance |
| rs139014 | 22:43,624,765 | T/C | regulatory region variant | — |
| rs752949276 | 22:43,625,140 | G/A | — | uncertain significance |
| rs150381076 | 22:43,627,777 | C/T | — | uncertain significance |
| rs138073453 | 22:43,627,795 | C/T | — | uncertain significance |
| rs1472581401 | 22:43,627,813 | C/T | — | uncertain significance |
| rs2518210454 | 22:43,634,916 | C/T | — | uncertain significance |
| rs750810273 | 22:43,634,952 | C/T | — | uncertain significance |
| rs5751452 | 22:43,635,573 | T/C | downstream gene variant | — |
| rs1021022434 | 22:43,654,236 | C/T | — | uncertain significance |
| rs2518236176 | 22:43,658,777 | A/C | — | uncertain significance |
| rs1923919526 | 22:43,658,782 | A/C | — | uncertain significance |
| rs2518236325 | 22:43,658,849 | C/T | — | uncertain significance |
| rs528981060 | 22:43,662,241 | G/A | — | — |
| rs142441509 | 22:43,667,796 | A/T | upstream gene variant | — |
| rs763982453 | 22:43,687,060 | C/T | — | uncertain significance |
| rs1925342700 | 22:43,687,145 | T/C | — | uncertain significance |
| rs764530411 | 22:43,716,041 | T/C | — | uncertain significance |
| rs138671719 | 22:43,735,174 | G/T | — | uncertain significance |
| rs1927185140 | 22:43,735,219 | G/C | — | uncertain significance |
| rs146217368 | 22:43,735,230 | C/T | — | uncertain significance |
| rs55941679 | 22:43,738,683 | C/T | regulatory region variant | — |
| rs536530206 | 22:43,739,191 | C/T | — | uncertain significance |
| rs1435958370 | 22:43,739,210 | C/G | — | uncertain significance |
| rs1278592144 | 22:43,739,264 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.