COPA

coat protein complex I subunit alpha

Summary

In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Known Variants657 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7666229691:160,259,951C/T—likely benign
rs25253415751:160,259,958G/A—uncertain significance
rs21018177411:160,259,959C/T—likely benign
rs21018177531:160,259,969A/G—uncertain significance
rs16581781671:160,259,970T/C—uncertain significance
rs13224290241:160,259,972C/T—uncertain significance
rs797081061:160,260,014A/G—likely benign
rs3693172601:160,260,026G/A—likely benign
rs22981041:160,260,233T/C—benign
rs10285334771:160,260,273A/G—likely benign
rs7651765601:160,260,282T/C—uncertain significance
rs12653027221:160,260,345C/A—uncertain significance
rs7715159031:160,260,356G/C—uncertain significance
rs3735212451:160,260,364C/T—conflicting classifications of pathogenicity
rs7459120401:160,260,365G/A—uncertain significance
rs7723293321:160,260,376C/T—uncertain significance
rs7755628361:160,260,377G/A—benign
rs14601072801:160,260,379T/C—uncertain significance
rs7610264181:160,260,381T/C—likely benign
rs11899694661:160,260,385G/A—uncertain significance
rs7764320731:160,260,386C/T—likely benign
rs14481130501:160,260,396G/A—likely benign
rs21018185771:160,260,402G/C—likely benign
rs7731785061:160,260,404G/A—likely benign
rs7546006651:160,260,412A/G—benign
rs12431344741:160,260,413T/C—uncertain significance
rs3764005051:160,260,414G/A—likely benign
rs5735075651:160,260,417A/G—benign
rs7577361211:160,260,421T/C—uncertain significance
rs7464363121:160,260,432G/A—likely benign
rs7608944941:160,260,439G/A—likely benign
rs7801169181:160,260,451T/C—uncertain significance
rs21018186531:160,260,462C/T—likely benign
rs7470755631:160,260,464G/A—likely benign
rs7688778761:160,260,472C/T—uncertain significance
rs7767533991:160,260,474G/A—likely benign
rs13899328271:160,260,475G/A—uncertain significance
rs9250926681:160,260,481G/A—likely benign
rs21018186901:160,260,482G/A—likely benign
rs5406546671:160,260,487G/C—likely benign
rs7696322511:160,260,493G/A—likely benign
rs3706318041:160,261,109A/C—likely benign
rs21018196261:160,261,111G/A—likely benign
rs7549686381:160,261,113A/G—likely benign
rs21018196411:160,261,114G/A—likely benign
rs13864374761:160,261,116T/G—likely benign
rs3683515621:160,261,132G/A—conflicting classifications of pathogenicity
rs25253464471:160,261,143C/T—likely benign
rs15578593001:160,261,149C/A—likely benign
rs13840018541:160,261,151C/G—uncertain significance
rs2006232381:160,261,152G/A—likely benign
rs13200121681:160,261,154G/A—uncertain significance
rs9602241791:160,261,161T/C—likely benign
rs7765286151:160,261,165C/T—uncertain significance
rs1493986101:160,261,168C/T—conflicting classifications of pathogenicity
rs2009916111:160,261,169G/A—uncertain significance
rs15711469781:160,261,177G/A—uncertain significance
rs25253467851:160,261,201A/C—uncertain significance
rs7591087731:160,261,213A/C—likely benign
rs1811352831:160,261,214G/T—uncertain significance
rs25253468601:160,261,216T/C—uncertain significance
rs16582270041:160,261,221G/A—likely benign
rs12597188031:160,261,228C/T—uncertain significance
rs25253469651:160,261,253G/A—uncertain significance
rs7631920471:160,261,264G/A—conflicting classifications of pathogenicity
rs10228435991:160,261,268G/A—uncertain significance
rs7539155421:160,261,276T/C—uncertain significance
rs21018198611:160,261,286T/A—uncertain significance
rs7519562101:160,261,297G/A—likely benign
rs13965862631:160,261,597T/C—likely benign
rs5674047281:160,261,598A/G—likely benign
rs12839073711:160,261,602A/G—likely benign
rs25253484091:160,261,603T/C—uncertain significance
rs12355300431:160,261,605T/C—uncertain significance
rs1412116321:160,261,619C/T—conflicting classifications of pathogenicity
rs7519527421:160,261,620G/A—uncertain significance
rs12525647041:160,261,636A/G—likely benign
rs7679918101:160,261,671C/A—conflicting classifications of pathogenicity
rs7561476001:160,261,672G/A—likely benign
rs1408033721:160,261,675C/T—benign
rs25253485711:160,261,677A/G—likely benign
rs1386251891:160,261,683C/A—conflicting classifications of pathogenicity
rs7721825301:160,261,695G/A—uncertain significance
rs21018205121:160,261,696G/T—uncertain significance
rs3693309811:160,261,716G/C—conflicting classifications of pathogenicity
rs25253486521:160,261,722G/A—uncertain significance
rs16582483081:160,261,728G/T—likely benign
rs7640936551:160,261,785C/T—likely benign
rs5760523091:160,261,786G/A—likely benign
rs3749002341:160,261,788C/G—likely benign
rs13947863501:160,261,791G/C—likely benign
rs15711476451:160,261,793C/A—likely benign
rs15711476521:160,261,798C/T—uncertain significance
rs7801585001:160,261,809A/G—likely benign
rs349978071:160,261,830A/G—uncertain significance
rs21018207911:160,261,849G/T—uncertain significance
rs25253490771:160,261,856G/A—likely benign
rs7693746951:160,261,869T/C—likely benign
rs16582568351:160,261,895T/C—likely benign
rs7759806931:160,261,911C/G—uncertain significance

Showing 100 of 657 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.