NRXN1

neurexin 1

Summary

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]

Known Variants1,764 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5410056702:50,145,736A/T—uncertain significance
rs8860561542:50,145,804A/C—uncertain significance
rs16677223422:50,145,878G/A—uncertain significance
rs9795895552:50,145,896T/G—uncertain significance
rs5310950262:50,145,959G/A—uncertain significance
rs1467785342:50,146,204C/T—benign
rs5539970302:50,146,247A/G—uncertain significance
rs16677824732:50,146,295T/C—uncertain significance
rs8860561552:50,146,316T/C—uncertain significance
rs16677901562:50,146,337C/G—uncertain significance
rs5337993992:50,146,453T/G—uncertain significance
rs8860561562:50,146,547G/A—uncertain significance
rs7468842162:50,146,568T/C—uncertain significance
rs1489383132:50,146,571C/G—benign
rs16678524082:50,146,696T/C—uncertain significance
rs5437976952:50,146,705A/G—uncertain significance
rs8860561582:50,146,709C/T—uncertain significance
rs1163709482:50,146,710C/T—benign
rs9935832762:50,146,784G/C—uncertain significance
rs8860561592:50,146,796G/T—uncertain significance
rs7619362092:50,146,797A/T—uncertain significance
rs1878751222:50,146,805C/T—likely benign
rs5515661432:50,146,860T/C—uncertain significance
rs12550150182:50,146,966G/T—uncertain significance
rs1123647132:50,146,977T/G—benign
rs5327843402:50,147,057A/T—uncertain significance
rs118858242:50,147,171C/A—benign
rs5623642872:50,147,240T/G—uncertain significance
rs778384292:50,147,390A/G—benign
rs1928621042:50,147,499A/G—uncertain significance
rs1121089432:50,147,543G/C—benign
rs2019707262:50,147,558A/C—uncertain significance
rs2019956752:50,147,693A/T—uncertain significance
rs1471218812:50,147,717T/C—benign
rs9183046222:50,147,734G/C—uncertain significance
rs129987982:50,147,755G/C—benign
rs16680240832:50,147,764T/G—uncertain significance
rs2010829482:50,147,881T/A—uncertain significance
rs2004522752:50,147,887T/C—uncertain significance
rs1996807262:50,147,992C/T—uncertain significance
rs8860561632:50,148,063C/T—uncertain significance
rs8860561652:50,148,268C/T—uncertain significance
rs1997020962:50,148,279G/C—uncertain significance
rs1997349692:50,148,289G/A—uncertain significance
rs2021363522:50,148,462T/A—uncertain significance
rs2016700282:50,148,500C/G—uncertain significance
rs1848709222:50,148,509T/G—likely benign
rs744217502:50,148,542A/T—benign
rs16681796172:50,148,555T/C—uncertain significance
rs2009571372:50,148,647A/G—uncertain significance
rs2019972982:50,148,648T/C—uncertain significance
rs8860561672:50,148,697C/T—uncertain significance
rs8860561682:50,148,699T/C—uncertain significance
rs1997615932:50,148,701G/C—uncertain significance
rs2011475302:50,148,763A/G—uncertain significance
rs2020487932:50,148,850C/T—uncertain significance
rs10458812:50,148,972C/T3 prime UTR variantbenign
rs2011471272:50,148,984T/C—uncertain significance
rs2013030412:50,149,064C/T—uncertain significance
rs1997777152:50,149,069T/G—likely benign
rs2008062692:50,149,070A/C—uncertain significance
rs5678877702:50,149,081A/T—likely benign
rs24656188072:50,149,088A/G—likely benign
rs2008149482:50,149,121G/A—likely benign
rs21039948812:50,149,126A/G—uncertain significance
rs13981012512:50,149,127G/A—likely benign
rs7548672402:50,149,128C/T—uncertain significance
rs1133807212:50,149,133C/T—likely benign
rs1487642642:50,149,134G/A—conflicting classifications of pathogenicity
rs9410961542:50,149,143G/A—uncertain significance
rs24656200782:50,149,147G/T—uncertain significance
rs9028939722:50,149,156T/C—uncertain significance
rs16682912972:50,149,162C/T—uncertain significance
rs11595151902:50,149,164G/A—uncertain significance
rs10380969022:50,149,169A/G—likely benign
rs8996018702:50,149,170T/C—uncertain significance
rs1843436842:50,149,178T/C—likely benign
rs24656211062:50,149,190G/T—likely benign
rs7813809332:50,149,193G/A—likely benign
rs12559412782:50,149,195A/C—uncertain significance
rs12401779572:50,149,200C/T—uncertain significance
rs13317034472:50,149,201G/A—uncertain significance
rs16682996022:50,149,204T/A—uncertain significance
rs2016305182:50,149,208G/A—likely benign
rs1125364472:50,149,214A/G—conflicting classifications of pathogenicity
rs13623257882:50,149,224C/G—uncertain significance
rs7635821962:50,149,233C/A—uncertain significance
rs2017856642:50,149,234G/A—uncertain significance
rs24656228332:50,149,236T/A—uncertain significance
rs24656229612:50,149,244C/T—likely benign
rs10605031752:50,149,254G/A—uncertain significance
rs16683124172:50,149,261G/T—uncertain significance
rs1117257062:50,149,262G/A—likely benign
rs15728558092:50,149,265G/A—likely benign
rs24656235152:50,149,267T/C—uncertain significance
rs7960527592:50,149,268A/G—likely benign
rs12938645692:50,149,269A/T—uncertain significance
rs13448419952:50,149,270G/T—uncertain significance
rs12381346062:50,149,280G/A—likely benign
rs7608153202:50,149,282C/T—uncertain significance

Showing 100 of 1,764 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.