ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1
Summary
This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs792975 | 5:172,271,007 | A/C | — | — |
| rs6890783 | 5:172,292,306 | G/A | intron variant | — |
| rs754205471 | 5:172,336,755 | C/T | — | uncertain significance |
| rs778943028 | 5:172,336,756 | A/T | — | uncertain significance |
| rs2480110916 | 5:172,341,747 | G/A | — | uncertain significance |
| rs1554112524 | 5:172,341,759 | T/A | — | pathogenic |
| rs766575211 | 5:172,341,770 | G/A | — | uncertain significance |
| rs2480111051 | 5:172,341,771 | A/C | — | uncertain significance |
| rs62387381 | 5:172,341,969 | C/T | — | benign |
| rs145748219 | 5:172,342,599 | C/T | — | likely benign |
| rs183246461 | 5:172,351,026 | G/A | — | uncertain significance |
| rs766175287 | 5:172,353,544 | C/T | — | likely benign |
| rs517339 | 5:172,354,731 | T/C | intron variant | — |
| rs200458222 | 5:172,362,186 | C/T | — | likely benign |
| rs141880390 | 5:172,362,200 | G/A | — | likely benign |
| rs1402145698 | 5:172,362,221 | A/C | — | uncertain significance |
| rs776536979 | 5:172,362,233 | A/G | — | uncertain significance |
| rs754272525 | 5:172,362,275 | A/G | — | uncertain significance |
| rs774919836 | 5:172,362,284 | C/T | — | uncertain significance |
| rs200774551 | 5:172,362,312 | C/T | — | uncertain significance |
| rs200374455 | 5:172,377,703 | C/T | — | likely benign |
| rs912819587 | 5:172,377,725 | T/C | — | uncertain significance |
| rs1581595267 | 5:172,377,728 | G/A | — | likely pathogenic |
| rs866921138 | 5:172,377,745 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.