COPB1

coat protein complex I subunit beta 1

Summary

This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75681410811:14,480,158T/G—uncertain significance
rs249385632811:14,480,199T/C—uncertain significance
rs54956060611:14,482,823A/G—uncertain significance
rs142107813211:14,486,467A/C—uncertain significance
rs20146742411:14,486,502C/T—uncertain significance
rs185025008011:14,486,529G/A—uncertain significance
rs74585793311:14,486,543A/G—uncertain significance
rs56759374911:14,486,551C/T—likely benign
rs77576654811:14,487,853A/G—likely benign
rs249387697411:14,490,270T/C—pathogenic
rs185033692511:14,490,274T/A—uncertain significance
rs142684767811:14,490,903T/G—uncertain significance
rs185035637211:14,490,935A/T—uncertain significance
rs77655438111:14,490,952T/C—uncertain significance
rs14794079211:14,491,026A/G—likely benign
rs5566583711:14,495,049C/G——
rs14299368211:14,496,079G/A—uncertain significance
rs15112084211:14,496,100T/G—uncertain significance
rs77595781811:14,496,111G/C—uncertain significance
rs249388968211:14,496,124A/C—uncertain significance
rs185047694711:14,496,127A/C—pathogenic
rs20213983111:14,496,142G/A—uncertain significance
rs142146798311:14,496,160G/T—uncertain significance
rs14092124711:14,496,161T/A—uncertain significance
rs257583811:14,498,221C/Gupstream gene variant—
rs78090770911:14,498,484A/T—uncertain significance
rs13884569911:14,501,123T/C—likely benign
rs76172602511:14,501,124T/A—uncertain significance
rs121473603711:14,501,169C/G—uncertain significance
rs14545135211:14,501,184C/T—uncertain significance
rs55984273611:14,501,185G/A—uncertain significance
rs14953164711:14,501,243A/C—uncertain significance
rs131631447211:14,502,372A/G—uncertain significance
rs76942134411:14,502,382A/G—uncertain significance
rs14827810211:14,502,591C/T—uncertain significance
rs14642713211:14,502,610T/C—uncertain significance
rs37567095111:14,502,647A/C—likely benign
rs14787284811:14,502,814T/Cdownstream gene variant—
rs185069588511:14,504,577C/A—pathogenic
rs158996346411:14,504,631A/G—likely benign
rs54245492411:14,504,658T/C—uncertain significance
rs249391848611:14,507,926G/T—uncertain significance
rs13954728311:14,507,937G/C—likely benign
rs75179499111:14,507,945C/T—uncertain significance
rs249391863711:14,507,975C/A—uncertain significance
rs36990923611:14,508,011G/A—uncertain significance
rs129004749711:14,512,206G/A—uncertain significance
rs57148403611:14,512,559A/G——
rs14518082811:14,515,239C/T—uncertain significance
rs249393521411:14,515,267G/A—uncertain significance
rs14750634511:14,515,881C/A—uncertain significance
rs132424488811:14,515,886C/T—uncertain significance
rs75015576111:14,515,887G/A—uncertain significance
rs36822144511:14,520,430T/C—likely benign
rs77406154411:14,520,456C/T—uncertain significance
rs123572469911:14,520,466C/T—likely benign
rs229016911:14,520,533T/C—conflicting classifications of pathogenicity

Gene information from NCBI Gene. Variant classifications from ClinVar.