NR6A1

nuclear receptor subfamily 6 group A member 1

Summary

This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]

Known Variants38 total

rsidPosition (GRCh37)AllelesClassClinVar
rs617337609:127,285,000C/Tbenign
rs7492664369:127,287,037A/Tuncertain significance
rs14134816859:127,287,072A/Guncertain significance
rs21313172089:127,287,085C/Tlikely benign
rs78688779:127,287,329G/Aintron variant
rs7514216539:127,289,161C/Tuncertain significance
rs1476428679:127,289,164C/Gbenign
rs1438068619:127,289,169C/Tuncertain significance
rs1422751159:127,289,179T/Guncertain significance
rs40733279:127,290,342C/Tregulatory region variant
rs7776128689:127,298,173C/Tuncertain significance
rs18332535939:127,298,305G/Cuncertain significance
rs7710896889:127,298,353G/Auncertain significance
rs617550579:127,298,363G/Abenign
rs7648475959:127,298,407C/Tuncertain significance
rs7544352669:127,300,380A/Guncertain significance
rs7481047189:127,300,437A/Tuncertain significance
rs14616315139:127,300,477G/Auncertain significance
rs1457928539:127,300,480G/Tuncertain significance
rs14697224879:127,300,525G/Tuncertain significance
rs7706784229:127,300,531G/Auncertain significance
rs25387484609:127,300,556C/Auncertain significance
rs25387485159:127,300,570C/Tuncertain significance
rs37801959:127,314,701C/Tregulatory region variant
rs2016157159:127,316,636T/Cuncertain significance
rs25387816879:127,316,750T/Cuncertain significance
rs7710353459:127,316,795C/Tuncertain significance
rs101140389:127,327,763A/Gintron variant
rs78743679:127,377,780T/Aintron variant
rs5483009509:127,512,896G/A
rs14443334119:127,533,300G/Cuncertain significance
rs18411413719:127,533,319A/Cuncertain significance
rs7527927879:127,533,329G/Auncertain significance
rs9741482979:127,533,337A/Tuncertain significance
rs13656658419:127,533,343C/Tuncertain significance
rs5438210839:127,533,379G/Tuncertain significance
rs13166920769:127,533,382G/Auncertain significance
rs9021519869:127,533,391C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.