SEMA3E

semaphorin 3E

Summary

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Known Variants607 total

rsidPosition (GRCh37)AllelesClassClinVar
rs102376827:82,996,646A/G—benign
rs756326317:82,996,675A/G—likely benign
rs38016617:82,996,706A/T—benign
rs751644037:82,996,831A/T—benign
rs44739807:82,996,856T/G—benign
rs7676213757:82,996,910C/A—uncertain significance
rs7537679627:82,996,914C/T—likely benign
rs7660020607:82,996,915G/A—uncertain significance
rs11993447177:82,996,923G/A—likely benign
rs21168915967:82,996,928G/A—likely benign
rs7467018997:82,996,930C/A—uncertain significance
rs800791437:82,996,947G/A—likely benign
rs14502890007:82,996,948G/C—uncertain significance
rs1434239707:82,996,951C/T—uncertain significance
rs5473035317:82,996,977A/G—likely benign
rs13229069627:82,996,991A/T—uncertain significance
rs21168917557:82,996,996G/A—uncertain significance
rs7754878447:82,997,006G/T—uncertain significance
rs13668823107:82,997,007C/T—likely benign
rs7650402157:82,997,010T/C—conflicting classifications of pathogenicity
rs7504265387:82,997,014C/T—uncertain significance
rs23715457:82,997,019T/C—benign
rs2006216967:82,997,022A/C—uncertain significance
rs13900596307:82,997,029C/G—uncertain significance
rs24842465477:82,997,031C/A—uncertain significance
rs21168918657:82,997,037T/C—uncertain significance
rs7521073967:82,997,042C/A—uncertain significance
rs7556716227:82,997,043G/A—likely benign
rs3721567957:82,997,071C/G—uncertain significance
rs8792553987:82,997,075A/C—uncertain significance
rs1486495077:82,997,078C/T—conflicting classifications of pathogenicity
rs3752113557:82,997,079G/A—likely benign
rs617296107:82,997,081T/C—benign
rs5382440117:82,997,087G/T—conflicting classifications of pathogenicity
rs7688181787:82,997,097C/A—uncertain significance
rs24842468137:82,997,108G/T—uncertain significance
rs7594361047:82,997,121C/A—likely benign
rs1219183417:82,997,122G/Amissense variantpathogenic
rs21168920827:82,997,124G/C—uncertain significance
rs24842468717:82,997,127G/T—uncertain significance
rs1422047967:82,997,128C/A—likely benign
rs15841950677:82,997,133C/T—likely benign
rs7542849877:82,997,151C/T—likely benign
rs17946949437:82,997,155T/C—uncertain significance
rs7577003787:82,997,160C/T—likely benign
rs3719108157:82,997,173T/A—uncertain significance
rs7724783367:82,997,174C/T—uncertain significance
rs5343033697:82,997,175G/A—likely benign
rs7473262857:82,997,176T/C—uncertain significance
rs7686065357:82,997,177C/T—uncertain significance
rs1443708417:82,997,182T/C—conflicting classifications of pathogenicity
rs7593827707:82,997,195C/T—uncertain significance
rs1466357667:82,997,196G/A—likely benign
rs7750000467:82,997,203T/C—uncertain significance
rs13402920867:82,997,217C/T—likely benign
rs12047540557:82,997,222A/G—likely benign
rs14817944167:82,997,224G/A—uncertain significance
rs7604312787:82,997,226G/A—likely benign
rs7794545557:82,997,233C/T—uncertain significance
rs7533196477:82,997,238C/T—likely benign
rs3755368137:82,997,239G/A—uncertain significance
rs24842472147:82,997,242T/C—uncertain significance
rs14518603707:82,997,253A/G—likely benign
rs17946973397:82,997,260A/G—uncertain significance
rs7473492697:82,997,261C/T—uncertain significance
rs24842472687:82,997,263G/A—uncertain significance
rs7551638497:82,997,271A/G—likely benign
rs12459335317:82,997,275T/C—uncertain significance
rs12277918687:82,997,277G/A—likely benign
rs1998404637:82,997,286A/G—likely benign
rs21168924277:82,997,291A/C—uncertain significance
rs17946979657:82,997,298T/C—likely benign
rs7700415227:82,997,301C/G—uncertain significance
rs12467550987:82,997,312G/A—uncertain significance
rs17946983947:82,997,316A/T—likely benign
rs7719760547:82,997,321G/C—conflicting classifications of pathogenicity
rs17946985357:82,997,325C/T—uncertain significance
rs14217454767:82,997,330T/G—uncertain significance
rs9004964077:82,997,337T/G—uncertain significance
rs5536304047:82,997,338C/T—uncertain significance
rs24842474777:82,997,340G/A—likely benign
rs5735230607:82,997,343A/T—uncertain significance
rs7637582157:82,997,345C/A—uncertain significance
rs21168925507:82,997,354C/T—uncertain significance
rs13213720617:82,997,358C/A—likely benign
rs17946991667:82,997,359A/G—likely benign
rs9391718167:82,997,362A/G—likely benign
rs5423794327:82,997,365A/G—likely benign
rs8910190607:82,997,368A/T—likely benign
rs64679447:82,997,525C/G—benign
rs22475327:82,997,589G/A—benign
rs1131765367:82,997,628G/A—likely benign
rs1811631117:82,999,204G/Aintron variant—
rs172849697:83,006,262G/Aintron variant—
rs609094587:83,007,116A/Tintron variant—
rs1501167097:83,014,517A/G—likely benign
rs600172787:83,014,550A/G—benign
rs24842751547:83,014,590A/C—likely benign
rs3733514277:83,014,591A/G—likely benign
rs21169163587:83,014,593A/C—likely benign

Showing 100 of 607 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.