ATM

ATM serine/threonine kinase

Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

Known Variants9,496 total

rsidPosition (GRCh37)AllelesClassClinVar
rs22858911:108,093,208A/Tregulatory region variantbenign
rs105633909511:108,093,495C/T—likely benign
rs99643819711:108,093,546G/A—uncertain significance
rs89083545511:108,093,573G/C—uncertain significance
rs498788011:108,093,616A/T—likely benign
rs55757238611:108,093,617T/C—uncertain significance
rs130184077711:108,093,662T/G—uncertain significance
rs88604760611:108,093,670G/A—uncertain significance
rs180006511:108,093,703G/C—uncertain significance
rs88604760811:108,093,715C/G—uncertain significance
rs55795352311:108,093,722T/A—uncertain significance
rs88604760911:108,093,726T/A—uncertain significance
rs87972589011:108,093,758G/A—uncertain significance
rs92861846411:108,093,770A/C—uncertain significance
rs213493633411:108,093,773G/A—uncertain significance
rs54020411911:108,093,797T/C—uncertain significance
rs133254269211:108,093,817A/G—uncertain significance
rs18903711:108,093,833G/Aregulatory region variantbenign
rs76611534811:108,093,850G/A—uncertain significance
rs320580811:108,093,870G/A—uncertain significance
rs105752323111:108,093,897A/G—likely benign
rs98283441111:108,093,901T/G—likely benign
rs105752348211:108,093,902C/T—likely benign
rs56399913711:108,093,910A/G—uncertain significance
rs100800306811:108,093,917G/C—benign
rs155505118411:108,093,919G/T—likely benign
rs90964750311:108,093,921C/T—benign
rs96240381311:108,093,925G/A—likely benign
rs145796584311:108,094,151G/A—likely benign
rs155505157411:108,094,508G/A—likely pathogenic
rs55268936611:108,095,042T/A—likely benign
rs86931248111:108,095,048C/T—likely benign
rs62512011:108,095,220A/Gupstream gene variant—
rs74943972511:108,095,695A/C—likely benign
rs22859011:108,096,141A/T——
rs22859111:108,097,333A/T——
rs498789711:108,098,142C/T—likely benign
rs321869311:108,098,243A/G—benign
rs18238212711:108,098,269A/C—benign
rs5609683411:108,098,278T/C—likely benign
rs76390074211:108,098,303A/G—likely benign
rs54978672811:108,098,305A/G—likely benign
rs77622787311:108,098,307G/A—likely benign
rs86931275411:108,098,321G/T—pathogenic
rs105752237511:108,098,325G/T—likely benign
rs213500296811:108,098,326T/C—likely benign
rs142247665911:108,098,327G/T—likely benign
rs89041353011:108,098,328A/G—likely benign
rs89007595611:108,098,333T/C—uncertain significance
rs37430367111:108,098,334G/C—likely benign
rs120483085211:108,098,337C/T—conflicting classifications of pathogenicity
rs76616661011:108,098,338T/C—conflicting classifications of pathogenicity
rs213500359011:108,098,347G/A—uncertain significance
rs159144563111:108,098,349A/G—uncertain significance
rs75521326711:108,098,350C/T—uncertain significance
rs207880445611:108,098,351C/T—uncertain significance
rs73088135911:108,098,352A/Gmissense variantpathogenic
rs78620360611:108,098,353T/Cmissense variantpathogenic
rs78140431211:108,098,354G/Amissense variantpathogenic
rs159144567711:108,098,355A/G—uncertain significance
rs73088136011:108,098,356G/C—uncertain significance
rs74815816811:108,098,357T/A—uncertain significance
rs711205311:108,098,358C/T—likely benign
rs87925405211:108,098,359——pathogenic
rs155505386111:108,098,359T/C—uncertain significance
rs155505386911:108,098,360A/G—likely benign
rs143858885311:108,098,361G/T—uncertain significance
rs155505387311:108,098,362T/C—conflicting classifications of pathogenicity
rs78620136511:108,098,363A/G—likely benign
rs207880577411:108,098,364C/G—uncertain significance
rs213500429311:108,098,365T/G—uncertain significance
rs135750678311:108,098,366T/G—likely benign
rs87665908811:108,098,369T/C—likely benign
rs207880618811:108,098,370G/C—uncertain significance
rs213500459411:108,098,373C/T—likely benign
rs155505388511:108,098,374T/G—conflicting classifications of pathogenicity
rs155505388811:108,098,375G/A—likely benign
rs207880653911:108,098,376C/T—uncertain significance
rs213500472911:108,098,377T/A—uncertain significance
rs156534394611:108,098,378T/C—likely benign
rs87666067111:108,098,379A/G—uncertain significance
rs213500489811:108,098,380T/C—conflicting classifications of pathogenicity
rs159144585611:108,098,381C/A—likely benign
rs213500498811:108,098,382T/C—uncertain significance
rs136489802511:108,098,383G/C—uncertain significance
rs155505390111:108,098,384C/T—conflicting classifications of pathogenicity
rs106050159711:108,098,385T/C—uncertain significance
rs159144589911:108,098,386G/A—uncertain significance
rs213500514711:108,098,387C/A—pathogenic
rs14158634511:108,098,388C/T—uncertain significance
rs77820104111:108,098,389G/A—uncertain significance
rs213500533111:108,098,391C/T—pathogenic
rs74977687911:108,098,392A/G—uncertain significance
rs77137810111:108,098,393A/G—likely benign
rs77188719511:108,098,394——pathogenic
rs213500549611:108,098,394C/T—likely benign
rs155505392711:108,098,395T/G—uncertain significance
rs117078389211:108,098,396A/G—likely benign
rs213500575311:108,098,397G/T—pathogenic
rs77476843711:108,098,399A/G—likely benign

Showing 100 of 9,496 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.