ADGRE1
adhesion G protein-coupled receptor E1
Summary
This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34176643 | 19:6,887,624 | G/T | — | benign |
| rs3826782 | 19:6,887,736 | G/A | intron variant | — |
| rs560598858 | 19:6,890,531 | C/T | — | uncertain significance |
| rs533285202 | 19:6,896,159 | T/C | — | — |
| rs150620217 | 19:6,896,478 | A/G | — | uncertain significance |
| rs769320979 | 19:6,896,484 | C/T | — | uncertain significance |
| rs112217832 | 19:6,897,195 | G/C | — | benign |
| rs780683854 | 19:6,897,295 | C/T | — | uncertain significance |
| rs2512456025 | 19:6,897,305 | C/A | — | uncertain significance |
| rs562101745 | 19:6,897,459 | A/G | — | likely benign |
| rs749517826 | 19:6,897,465 | G/A | — | uncertain significance |
| rs1177554787 | 19:6,897,493 | A/C | — | uncertain significance |
| rs375715052 | 19:6,897,511 | G/A | — | likely benign |
| rs370359678 | 19:6,897,518 | C/A | — | uncertain significance |
| rs751073766 | 19:6,897,553 | G/C | — | uncertain significance |
| rs1475175060 | 19:6,901,904 | A/G | — | uncertain significance |
| rs61733001 | 19:6,901,961 | G/C | missense variant | — |
| rs2512467444 | 19:6,901,988 | G/T | — | uncertain significance |
| rs374475182 | 19:6,903,851 | T/A | — | uncertain significance |
| rs1973857370 | 19:6,903,923 | G/A | — | uncertain significance |
| rs896160795 | 19:6,903,957 | T/G | — | uncertain significance |
| rs2512473267 | 19:6,904,098 | G/T | — | uncertain significance |
| rs757883084 | 19:6,904,139 | G/A | — | uncertain significance |
| rs2512473486 | 19:6,904,148 | C/A | — | uncertain significance |
| rs900643593 | 19:6,906,455 | A/G | — | uncertain significance |
| rs78491083 | 19:6,906,469 | T/C | — | benign |
| rs1448647038 | 19:6,906,473 | A/T | — | uncertain significance |
| rs759451107 | 19:6,906,497 | C/A | — | uncertain significance |
| rs763751146 | 19:6,906,510 | G/A | — | uncertain significance |
| rs112318416 | 19:6,908,112 | G/A | intron variant | — |
| rs771076276 | 19:6,908,719 | T/G | — | uncertain significance |
| rs2144931411 | 19:6,908,762 | A/C | — | uncertain significance |
| rs145437105 | 19:6,908,764 | C/T | — | uncertain significance |
| rs142294774 | 19:6,908,769 | G/A | — | uncertain significance |
| rs769714668 | 19:6,908,779 | T/A | — | uncertain significance |
| rs466876 | 19:6,913,707 | T/C | — | uncertain significance |
| rs1223741145 | 19:6,913,737 | C/A | — | uncertain significance |
| rs140964323 | 19:6,913,770 | A/C | — | uncertain significance |
| rs757037723 | 19:6,913,827 | G/A | — | likely benign |
| rs141986863 | 19:6,913,831 | G/A | — | benign |
| rs62123082 | 19:6,914,444 | A/G | intron variant | — |
| rs200225003 | 19:6,916,272 | A/C | — | uncertain significance |
| rs146387629 | 19:6,916,316 | T/G | — | uncertain significance |
| rs1028959427 | 19:6,916,318 | G/C | — | uncertain significance |
| rs2512508495 | 19:6,919,587 | T/G | — | uncertain significance |
| rs537322666 | 19:6,919,602 | G/A | — | likely benign |
| rs2512508918 | 19:6,919,658 | T/A | — | uncertain significance |
| rs760348057 | 19:6,919,684 | G/C | — | uncertain significance |
| rs142114236 | 19:6,919,688 | G/C | — | uncertain significance |
| rs775414178 | 19:6,919,739 | A/G | — | uncertain significance |
| rs766771619 | 19:6,921,724 | C/G | — | uncertain significance |
| rs373945925 | 19:6,921,803 | G/A | — | uncertain significance |
| rs2512515653 | 19:6,921,842 | G/A | — | uncertain significance |
| rs1475054434 | 19:6,921,847 | A/C | — | uncertain significance |
| rs7256147 | 19:6,921,868 | G/A | missense variant | — |
| rs367934977 | 19:6,921,878 | C/T | — | uncertain significance |
| rs2512523060 | 19:6,924,693 | A/C | — | uncertain significance |
| rs781013340 | 19:6,924,728 | A/G | — | uncertain significance |
| rs149745999 | 19:6,924,756 | C/T | — | uncertain significance |
| rs2512523655 | 19:6,924,818 | C/T | — | uncertain significance |
| rs372416153 | 19:6,924,860 | G/A | — | uncertain significance |
| rs117242880 | 19:6,926,396 | C/T | — | likely benign |
| rs1012259256 | 19:6,926,602 | A/G | — | uncertain significance |
| rs771416208 | 19:6,928,179 | G/C | — | uncertain significance |
| rs767882141 | 19:6,928,200 | G/A | — | uncertain significance |
| rs200523018 | 19:6,928,217 | A/G | — | uncertain significance |
| rs140779395 | 19:6,928,269 | A/T | — | benign |
| rs7249745 | 19:6,931,218 | T/C | intron variant | — |
| rs148958063 | 19:6,937,250 | C/T | — | benign |
| rs1297353730 | 19:6,937,384 | G/A | — | uncertain significance |
| rs140342957 | 19:6,937,559 | G/A | — | uncertain significance |
| rs186352511 | 19:6,937,625 | T/C | — | uncertain significance |
| rs915952414 | 19:6,937,626 | C/G | — | uncertain significance |
| rs146614136 | 19:6,937,642 | C/A | — | benign |
| rs111579004 | 19:6,937,658 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.