COPZ1
coat protein complex I subunit zeta 1
Summary
This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs574708537 | 12:54,725,250 | A/G | — | — |
| rs759431303 | 12:54,734,347 | C/T | — | uncertain significance |
| rs768230114 | 12:54,735,998 | C/T | — | likely benign |
| rs4326844 | 12:54,736,470 | A/C | — | — |
| rs941520069 | 12:54,739,262 | C/A | — | uncertain significance |
| rs1158294362 | 12:54,741,558 | G/A | — | uncertain significance |
| rs778071914 | 12:54,741,800 | G/C | — | uncertain significance |
| rs761154246 | 12:54,741,821 | C/T | — | uncertain significance |
| rs780397662 | 12:54,741,822 | G/A | — | uncertain significance |
| rs115975751 | 12:54,743,433 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.