EMC3
ER membrane protein complex subunit 3
Summary
Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769523238 | 3:10,005,795 | G/A | — | likely benign |
| rs761023207 | 3:10,011,426 | C/T | — | uncertain significance |
| rs2085775340 | 3:10,012,302 | G/A | — | uncertain significance |
| rs2470585827 | 3:10,019,116 | C/T | — | uncertain significance |
| rs55850027 | 3:10,020,524 | C/A | — | — |
| rs373587570 | 3:10,028,217 | C/G | — | uncertain significance |
| rs2085974749 | 3:10,028,225 | C/G | — | uncertain significance |
| rs1319989898 | 3:10,028,231 | G/C | — | uncertain significance |
| rs147522373 | 3:10,038,473 | C/G | downstream gene variant | — |
| rs2272118 | 3:10,049,287 | T/C | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.