SEC16B

SEC16 homolog B, endoplasmic reticulum export factor

Summary

SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7693061361:177,899,040G/Auncertain significance
rs5456081:177,899,121G/T
rs1997059351:177,899,688C/Guncertain significance
rs772770701:177,899,699T/Cbenign
rs7723099991:177,899,730G/Tuncertain significance
rs21018971181:177,901,641C/Auncertain significance
rs7605507261:177,901,651C/Guncertain significance
rs9070675361:177,901,689C/Tlikely benign
rs7523732221:177,901,937G/Tuncertain significance
rs1453871721:177,902,368G/Abenign
rs2011063481:177,902,374T/Cuncertain significance
rs16505801311:177,902,377T/Cuncertain significance
rs771697631:177,902,413G/Auncertain significance
rs16506104231:177,902,656T/Clikely benign
rs7778611021:177,902,668C/Tlikely benign
rs7604252031:177,902,689T/Guncertain significance
rs3694858781:177,902,729C/Auncertain significance
rs2010356351:177,905,454T/Gconflicting classifications of pathogenicity
rs3718268241:177,906,415C/Tuncertain significance
rs3734247431:177,906,438T/Cuncertain significance
rs25254988381:177,906,502G/Auncertain significance
rs3775078861:177,906,513G/Auncertain significance
rs7546183251:177,906,529G/Tuncertain significance
rs7623508791:177,906,588C/Tuncertain significance
rs1995393041:177,909,767G/Alikely benign
rs7491668591:177,911,068G/Tlikely benign
rs7746900381:177,911,111T/Cuncertain significance
rs1498955801:177,911,150C/Tuncertain significance
rs1913575401:177,911,151G/Auncertain significance
rs25255286751:177,911,160A/Guncertain significance
rs109134691:177,913,519T/Cintron variant
rs16515266061:177,913,718T/Auncertain significance
rs2020594111:177,913,724C/Guncertain significance
rs5623825471:177,913,725G/Auncertain significance
rs7808180931:177,913,739C/Guncertain significance
rs12639984131:177,913,746C/Guncertain significance
rs25255445901:177,913,749A/Guncertain significance
rs5549952301:177,915,625T/Cuncertain significance
rs13002166931:177,915,628G/Cuncertain significance
rs16517214831:177,915,631A/Guncertain significance
rs13951850131:177,915,634A/Guncertain significance
rs10073219241:177,915,654A/Guncertain significance
rs25255585761:177,915,658C/Tuncertain significance
rs2001327351:177,917,055C/Tlikely benign
rs3712942481:177,921,050G/Tuncertain significance
rs12529302391:177,921,069T/Auncertain significance
rs14070156271:177,921,113G/Auncertain significance
rs12281535511:177,923,429C/Tlikely benign
rs1120929071:177,923,450T/Cuncertain significance
rs11621339321:177,927,287G/Auncertain significance
rs5735485661:177,927,308C/Tuncertain significance
rs12878433061:177,927,311T/Cuncertain significance
rs7721430461:177,927,349G/Auncertain significance
rs3709119351:177,927,361G/Auncertain significance
rs7788750151:177,927,458C/Tuncertain significance
rs5442900421:177,927,473C/Tuncertain significance
rs5599087981:177,927,985C/Tuncertain significance
rs3718338381:177,928,015A/Guncertain significance
rs12919753831:177,928,033C/Tuncertain significance
rs1888332731:177,928,104A/Cuncertain significance
rs13440384121:177,929,491T/Clikely benign
rs8684965631:177,930,021G/Auncertain significance
rs3766755551:177,930,763T/Cuncertain significance
rs13809538111:177,930,817C/Tuncertain significance
rs730450271:177,930,833G/Abenign
rs3684454011:177,933,355G/Tuncertain significance
rs7694127391:177,933,367C/Tuncertain significance
rs9721066351:177,934,216T/Auncertain significance
rs7627833381:177,934,293T/Cuncertain significance
rs10373308481:177,935,052G/Auncertain significance
rs25257165251:177,935,057C/Auncertain significance
rs3745634831:177,935,063T/Cuncertain significance
rs7677132431:177,935,100T/Clikely benign
rs1999971511:177,936,845C/Tuncertain significance
rs3760227311:177,936,849C/Tuncertain significance
rs8999829331:177,936,916C/Auncertain significance
rs1878221841:177,936,994G/Tuncertain significance
rs7620529221:177,937,035G/Auncertain significance
rs1390493911:177,937,065C/Tbenign
rs16536838631:177,937,082G/Auncertain significance
rs7746829581:177,937,084C/Auncertain significance
rs7524306191:177,937,109A/Glikely benign
rs109134811:177,947,525A/Gintron variant
rs75174421:177,949,888C/Tintron variant
rs46509871:177,951,803A/Gintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.