GORAB

golgin, RAB6 interacting

Summary

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Known Variants310 total

rsidPosition (GRCh37)AllelesClassClinVar
rs168633971:170,501,167T/C—benign
rs7699373201:170,501,292G/A—uncertain significance
rs1483137481:170,501,294G/T—uncertain significance
rs13227957451:170,501,297G/A—pathogenic
rs25259033091:170,501,298G/C—uncertain significance
rs7644768621:170,501,300C/T—uncertain significance
rs7748430031:170,501,301A/G—likely benign
rs13162525621:170,501,303C/T—uncertain significance
rs12269313631:170,501,304A/G—likely benign
rs1880310691:170,501,308T/C—conflicting classifications of pathogenicity
rs1506880091:170,501,312C/A—uncertain significance
rs13671968241:170,501,315T/G—uncertain significance
rs7522738791:170,501,316C/T—likely benign
rs7774202671:170,501,319G/A—likely benign
rs3755547001:170,501,321C/T—uncertain significance
rs14559301071:170,501,325G/C—likely benign
rs11621338841:170,501,326A/G—uncertain significance
rs16487144581:170,501,327G/T—uncertain significance
rs5536633411:170,501,337C/G—uncertain significance
rs7696575151:170,501,340T/C—likely benign
rs15579994711:170,501,341T/C—uncertain significance
rs1494015581:170,501,344G/A—uncertain significance
rs25259036591:170,501,345G/T—uncertain significance
rs7494358481:170,501,346G/C—likely benign
rs1447916271:170,501,350C/T—conflicting classifications of pathogenicity
rs25259037171:170,501,352G/A—likely benign
rs25259037261:170,501,353T/G—uncertain significance
rs25259037311:170,501,354G/A—pathogenic
rs1432849811:170,501,359G/A—uncertain significance
rs25259037731:170,501,361G/A—likely benign
rs15712328271:170,501,363C/T—uncertain significance
rs16487211991:170,501,367G/A—uncertain significance
rs25259038681:170,501,371C/T—pathogenic
rs7612428071:170,501,378G/A—pathogenic
rs75311251:170,501,385A/C—benign
rs1510068391:170,501,388C/G—uncertain significance
rs13852773481:170,501,391T/C—likely benign
rs25259040781:170,501,406G/A—likely benign
rs7569052501:170,501,421T/C—likely benign
rs16487275491:170,501,425G/T—uncertain significance
rs16487277751:170,501,426G/A—likely pathogenic
rs21018124321:170,501,432A/G—likely benign
rs14334112401:170,501,433G/A—likely benign
rs2020051731:170,501,438G/T—conflicting classifications of pathogenicity
rs25259043241:170,501,440T/G—likely benign
rs765138791:170,501,442A/G—likely benign
rs115781191:170,501,456C/T—benign
rs5422968621:170,501,572T/C——
rs1480246411:170,501,575G/A—benign
rs12346658231:170,508,331C/T—likely benign
rs5615787221:170,508,335A/G—likely benign
rs16492401711:170,508,339T/G—likely benign
rs25259282891:170,508,340C/T—likely benign
rs8948229831:170,508,347A/G—likely benign
rs730291381:170,508,348T/C—benign
rs10518807201:170,508,352T/C—likely benign
rs25259283511:170,508,355A/G—likely benign
rs3740514441:170,508,358T/C—likely benign
rs13834311961:170,508,360A/T—uncertain significance
rs7703554721:170,508,368C/T—pathogenic
rs7612436011:170,508,371C/T—uncertain significance
rs1443831041:170,508,372G/A—uncertain significance
rs7727710531:170,508,377C/A—uncertain significance
rs7604524461:170,508,378C/A—uncertain significance
rs7662442501:170,508,379C/T—likely benign
rs1461316541:170,508,380G/A—uncertain significance
rs1384200811:170,508,381C/T—conflicting classifications of pathogenicity
rs7652762171:170,508,382G/A—likely benign
rs7527517871:170,508,392C/T—pathogenic
rs7471798381:170,508,397A/G—likely benign
rs7575140961:170,508,401C/T—uncertain significance
rs7815352041:170,508,402T/G—uncertain significance
rs3699678041:170,508,407C/T—pathogenic
rs11583124681:170,508,408G/A—uncertain significance
rs25259288001:170,508,409A/T—likely benign
rs21018208221:170,508,419C/T—uncertain significance
rs13860926251:170,508,421T/C—likely benign
rs16492502481:170,508,424A/G—likely benign
rs13027359561:170,508,425G/T—pathogenic
rs7702306151:170,508,427G/A—likely benign
rs11727755581:170,508,428C/T—pathogenic
rs7758670921:170,508,431A/T—uncertain significance
rs1908501681:170,508,445G/T—likely benign
rs14494815271:170,508,453A/G—uncertain significance
rs25259291011:170,508,463C/T—likely benign
rs2003337981:170,508,477A/G—uncertain significance
rs14610501521:170,508,479C/T—pathogenic
rs10361225291:170,508,490A/C—likely benign
rs1396750531:170,508,497A/G—uncertain significance
rs15580044131:170,508,506G/A—uncertain significance
rs3776431721:170,508,511C/T—likely benign
rs7517089021:170,508,512G/A—uncertain significance
rs7814084131:170,508,523A/G—likely benign
rs13294566471:170,508,525C/G—uncertain significance
rs2000827611:170,508,526T/C—likely benign
rs7805621931:170,508,539A/G—uncertain significance
rs3746143301:170,508,546C/T—uncertain significance
rs3774424981:170,508,547G/A—likely benign
rs25259297021:170,508,549G/A—uncertain significance
rs25259297271:170,508,553T/C—likely benign

Showing 100 of 310 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.