TONSL

tonsoku like, DNA repair protein

Summary

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

Known Variants944 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14244100048:145,654,527C/T—likely benign
rs7828104228:145,654,532G/A—likely benign
rs12644029528:145,654,536C/T—uncertain significance
rs18230556498:145,654,544G/C—likely benign
rs13217555518:145,654,574G/A—likely benign
rs15548779348:145,654,577G/A—likely benign
rs9478558958:145,654,581C/T—uncertain significance
rs1129091418:145,654,582C/A—uncertain significance
rs13397194968:145,654,583C/T—likely benign
rs12986520098:145,654,586C/T—likely benign
rs13888621928:145,654,590C/T—uncertain significance
rs18230606398:145,654,611G/C—uncertain significance
rs15548780228:145,654,613G/T—uncertain significance
rs5613569888:145,654,616C/A—uncertain significance
rs7824985668:145,654,622C/T—likely benign
rs14249598558:145,654,635C/T—uncertain significance
rs7818832418:145,654,636G/A—uncertain significance
rs7824421458:145,654,642T/C—uncertain significance
rs15548780768:145,654,659C/T—conflicting classifications of pathogenicity
rs15647243528:145,654,661G/A—likely benign
rs3761042578:145,654,667C/A—likely benign
rs15548780848:145,654,670G/A—likely benign
rs25374697688:145,654,685C/T—likely benign
rs10313629608:145,654,697C/T—likely benign
rs12706350638:145,654,701G/A—uncertain significance
rs7826582248:145,654,702G/A—uncertain significance
rs1897860448:145,654,711C/T—likely benign
rs15548781118:145,654,713G/A—uncertain significance
rs18230713378:145,654,727G/A—likely benign
rs15548781158:145,654,729G/A—likely benign
rs7820473288:145,654,730G/C—likely benign
rs7825736428:145,654,735G/A—likely benign
rs14648785528:145,654,738C/A—likely benign
rs15548781208:145,654,739A/G—likely benign
rs3764356528:145,655,781A/T—uncertain significance
rs7818824128:145,655,791C/T—likely benign
rs3708208808:145,655,816G/A—conflicting classifications of pathogenicity
rs25374724668:145,655,839G/A—likely benign
rs349993468:145,655,860G/A—benign
rs1476968738:145,655,869A/C—likely benign
rs3776884838:145,655,872G/C—uncertain significance
rs7819590028:145,655,875G/A—likely benign
rs5413987098:145,655,877C/T—uncertain significance
rs7827836788:145,655,879G/C—uncertain significance
rs25374726018:145,655,889G/A—likely benign
rs5665374328:145,655,895T/C—conflicting classifications of pathogenicity
rs14169471498:145,655,899T/C—likely benign
rs15548784258:145,655,902G/C—likely benign
rs49258568:145,655,903G/A—benign
rs13996367578:145,655,908C/G—likely benign
rs7824774808:145,655,916G/A—uncertain significance
rs1921261168:145,655,931A/G—likely benign
rs5702622878:145,655,932T/A—likely benign
rs25374727408:145,655,934G/C—likely benign
rs7827885828:145,656,425C/T—uncertain significance
rs7819376248:145,656,441C/T—likely benign
rs3735946108:145,656,452G/C—likely benign
rs3706402648:145,656,456G/A—uncertain significance
rs1450666518:145,656,472T/C—likely benign
rs7825635358:145,656,477C/T—conflicting classifications of pathogenicity
rs3683646008:145,656,501C/T—uncertain significance
rs3717928718:145,656,508G/C—likely benign
rs12670573718:145,656,541A/G—likely benign
rs25374739618:145,656,546C/G—likely benign
rs7822868238:145,656,550G/A—likely benign
rs25374739768:145,656,552C/A—likely benign
rs21308366038:145,656,554C/G—likely benign
rs132733268:145,656,806A/Gupstream gene variant—
rs15548788478:145,657,657C/T—likely benign
rs9744907988:145,657,664G/A—uncertain significance
rs14144123558:145,657,667C/T—likely pathogenic
rs14264065858:145,657,674C/G—likely benign
rs11790723968:145,657,681C/T—likely benign
rs7825125788:145,657,682G/A—pathogenic
rs7826910768:145,657,686T/A—likely benign
rs7822311588:145,657,705G/A—uncertain significance
rs7823878098:145,657,712C/T—uncertain significance
rs5552214638:145,657,716G/A—likely benign
rs7822951218:145,657,718C/T—uncertain significance
rs7824055858:145,657,719G/A—likely benign
rs7820397428:145,657,722T/C—likely benign
rs7819467148:145,657,727C/G—uncertain significance
rs3676843648:145,657,728G/A—likely benign
rs13011729748:145,657,734G/A—likely benign
rs25374765498:145,657,736G/A—uncertain significance
rs25374765738:145,657,741A/G—uncertain significance
rs2009969028:145,657,754T/C—conflicting classifications of pathogenicity
rs5444814268:145,657,758G/A—likely benign
rs3767296588:145,657,760C/T—uncertain significance
rs345999998:145,657,761G/A—benign
rs1436373358:145,657,767G/A—likely benign
rs12055611088:145,657,769T/C—uncertain significance
rs7821899388:145,657,772G/A—pathogenic
rs8689668228:145,657,773C/T—likely benign
rs15548789068:145,657,774A/G—uncertain significance
rs25374766948:145,657,787G/C—uncertain significance
rs7823906478:145,657,790C/A—uncertain significance
rs25374767298:145,657,791A/G—likely benign
rs7819387778:145,657,795G/T—uncertain significance
rs25374767598:145,657,800C/T—uncertain significance

Showing 100 of 944 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.