NRXN3

neurexin 3

Summary

This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7268576514:78,696,742T/Cdownstream gene variant—
rs98379514:78,697,556G/Adownstream gene variant—
rs103424510514:78,709,487G/A—likely benign
rs77214607414:78,709,618C/T—uncertain significance
rs77322546414:78,709,646C/T—likely benign
rs53124459714:78,709,688C/T—likely benign
rs91358599414:78,709,718C/T—likely benign
rs13881715014:78,709,727C/T—likely benign
rs36786709014:78,709,799G/A—likely benign
rs188282114:78,709,814C/T—benign
rs53661741314:78,709,904A/T—likely benign
rs1162644614:78,710,044G/A—benign
rs103619863014:78,745,015T/G—likely benign
rs11207984914:78,765,717C/Tintron variant—
rs715543414:78,775,306A/Cintron variant—
rs1162470414:78,786,077A/Cintron variant—
rs657443314:78,786,159A/Gintron variant—
rs91790614:78,869,474C/G——
rs11769608014:78,951,205G/A—benign
rs1014439814:79,011,344A/Gintron variant—
rs7406432814:79,089,395G/C——
rs14090703514:79,111,497A/T—benign
rs76430335914:79,111,530G/A—likely benign
rs36907524114:79,111,584C/T—likely benign
rs209767539114:79,111,620T/C—likely benign
rs20202962814:79,111,740C/T—likely benign
rs55681843614:79,117,498C/T—likely benign
rs14534507214:79,117,576C/A—likely benign
rs14873118814:79,117,651C/T—likely benign
rs101565266214:79,156,846A/G——
rs78038729814:79,175,585G/A—uncertain significance
rs209838665214:79,175,620A/T—uncertain significance
rs77587330014:79,175,641G/A—uncertain significance
rs105751945114:79,175,653A/Gmissense variantpathogenic
rs37132319414:79,175,721C/T—likely benign
rs136297661514:79,175,732C/T—uncertain significance
rs14837111514:79,175,815G/A—uncertain significance
rs3408317314:79,175,879A/C—likely benign
rs75515630614:79,181,106A/G—uncertain significance
rs75528298214:79,181,196G/A—likely benign
rs100421214:79,181,226C/Gsynonymous variant—
rs77179111214:79,181,400T/C—likely benign
rs76921153814:79,181,471C/T—uncertain significance
rs1015173114:79,205,619T/Gintron variant—
rs53962551614:79,266,423G/A——
rs140432255414:79,270,027T/G—uncertain significance
rs1710825514:79,270,039G/A—benign
rs228814014:79,270,093G/A—benign
rs1710826314:79,270,111C/T—benign
rs76618440014:79,270,176G/A—likely benign
rs131191169914:79,298,357A/G——
rs75075576614:79,423,598G/A—likely benign
rs3500870714:79,423,631C/T—uncertain significance
rs77388976714:79,423,657G/A—uncertain significance
rs156781701914:79,423,667A/G—likely benign
rs76673388814:79,423,691T/A—uncertain significance
rs75426551114:79,423,692G/A—uncertain significance
rs54890874014:79,432,436C/T—uncertain significance
rs194264161614:79,432,509T/C—uncertain significance
rs255182506014:79,432,519C/A—uncertain significance
rs14247794214:79,432,622C/T—uncertain significance
rs124817944914:79,432,723C/T—likely benign
rs209942013114:79,433,582G/A—uncertain significance
rs14052815214:79,433,613G/A—uncertain significance
rs104569836514:79,433,616C/T—uncertain significance
rs37440793314:79,433,644C/T—likely benign
rs121539784514:79,434,507C/T—likely benign
rs14668587814:79,434,526T/C—likely benign
rs255183435114:79,434,539G/C—uncertain significance
rs36849022914:79,434,627G/A—uncertain significance
rs37233491714:79,434,664C/T—likely benign
rs13794386614:79,434,678G/A—uncertain significance
rs53104739014:79,434,692A/Gsplice region variantpathogenic
rs159827309114:79,454,360A/C—likely benign
rs138777765114:79,454,380G/T—uncertain significance
rs490381314:79,507,314C/Tregulatory region variant—
rs1014399814:79,525,531C/A——
rs93764814:79,534,287G/Adownstream gene variant—
rs1288429614:79,534,362A/G——
rs1288714314:79,561,322A/T——
rs800533414:79,563,654T/A——
rs3412128814:79,580,218C/Tintron variant—
rs714932514:79,587,256G/Aintron variant—
rs801547214:79,614,867A/Gintron variant—
rs1243210314:79,664,529A/G—uncertain significance
rs117410918414:79,708,411G/A——
rs14123455714:79,746,653G/A—likely benign
rs221788714:79,883,825T/Cintron variant—
rs714142014:79,899,454C/G——
rs237098314:79,903,376G/T——
rs1710921414:79,905,862T/Gintron variant—
rs1783608814:79,932,041G/Cregulatory region variant—
rs77100369514:79,933,554G/A—likely benign
rs215361358414:79,933,641C/T—uncertain significance
rs77818844814:79,933,658C/T—likely benign
rs1015033214:79,936,964T/Cintron variant—
rs802036514:79,937,216T/G——
rs1014515414:79,939,525C/Tintron variant—
rs2847979514:79,943,606C/A——
rs800891014:79,944,099G/Aintron variant—

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.