MRE11

MRE11 double strand break repair nuclease

Summary

This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants1,590 total

rsidPosition (GRCh37)AllelesClassClinVar
rs39750934911:94,150,560C/T—other
rs120874878111:94,150,587C/G—uncertain significance
rs76629724411:94,150,588T/C—uncertain significance
rs194505666511:94,150,591G/A—uncertain significance
rs1344776011:94,150,592T/A—benign
rs1344775911:94,150,629T/C—benign
rs56633403111:94,150,633T/C—uncertain significance
rs18212863911:94,150,760T/A—uncertain significance
rs215520911:94,150,790T/Cregulatory region variantbenign
rs1344775811:94,150,825A/G—benign
rs57467071211:94,150,839G/A—uncertain significance
rs36933601611:94,150,847T/C—likely benign
rs128924082811:94,150,967C/A—uncertain significance
rs88604874611:94,150,971A/G—uncertain significance
rs88604874711:94,150,995T/C—uncertain significance
rs88604874811:94,151,033C/G—uncertain significance
rs88604874911:94,151,113T/G—uncertain significance
rs90812633111:94,151,121T/A—uncertain significance
rs88604875011:94,151,185A/G—uncertain significance
rs1344775511:94,151,224T/C—benign
rs1344775411:94,151,238A/G—benign
rs10489500411:94,151,358C/A—uncertain significance
rs100276413911:94,151,391G/A—uncertain significance
rs10489500511:94,151,515G/A—uncertain significance
rs1344775211:94,151,525C/G—benign
rs10489500611:94,151,545C/A—not provided
rs98650333511:94,151,587C/T—uncertain significance
rs53906108311:94,151,630T/G—uncertain significance
rs88604875111:94,151,737G/C—uncertain significance
rs14664171911:94,151,925C/T—uncertain significance
rs39750934811:94,151,932A/G—other
rs56208325711:94,151,987T/A—uncertain significance
rs10489500711:94,152,063T/C—not provided
rs140651868011:94,152,117G/A—uncertain significance
rs88604875211:94,152,205T/C—uncertain significance
rs11807049311:94,152,208A/G—benign
rs135663922611:94,152,209A/G—uncertain significance
rs14920865211:94,152,294T/C—likely benign
rs75779010911:94,152,317G/C—uncertain significance
rs96007071111:94,152,318T/C—uncertain significance
rs194509985211:94,152,414T/C—uncertain significance
rs1344775011:94,152,443T/C—uncertain significance
rs55768340911:94,152,531C/T—uncertain significance
rs88604875411:94,152,550T/C—uncertain significance
rs125521580011:94,152,551C/T—uncertain significance
rs10489500811:94,152,606G/A—not provided
rs19965389311:94,152,619C/T—uncertain significance
rs53821850011:94,152,620G/A—uncertain significance
rs88604875511:94,152,622G/C—uncertain significance
rs59195911:94,152,631G/A—uncertain significance
rs1102077711:94,152,633A/G—uncertain significance
rs10489500911:94,152,635A/G—uncertain significance
rs39750934711:94,152,660G/A—other
rs14240754511:94,152,663C/T—likely benign
rs90979392711:94,152,698T/G—uncertain significance
rs39750934611:94,152,721T/G—uncertain significance
rs1344774911:94,152,780C/T—benign
rs88604875711:94,152,844A/C—uncertain significance
rs106195611:94,152,849T/C—benign
rs10489501011:94,152,860C/A—not provided
rs75880392011:94,152,862T/C—uncertain significance
rs88604875811:94,152,978C/T—uncertain significance
rs10489501111:94,153,077A/C—not provided
rs100581775211:94,153,098A/G—uncertain significance
rs15128748311:94,153,102C/T—likely benign
rs1344774511:94,153,108C/T—benign
rs14705954911:94,153,288A/G—uncertain significance
rs155499666811:94,153,290A/G—uncertain significance
rs13801756011:94,153,294T/C—conflicting classifications of pathogenicity
rs249608854911:94,153,296T/G—likely benign
rs87665999511:94,153,297T/C—likely benign
rs155499668011:94,153,299T/C—uncertain significance
rs159162108011:94,153,301T/C—uncertain significance
rs78620117411:94,153,303T/C—likely benign
rs75005722211:94,153,304C/A—uncertain significance
rs75568134211:94,153,305T/C—uncertain significance
rs133092917311:94,153,309T/G—uncertain significance
rs249608908011:94,153,316C/T—uncertain significance
rs249608909611:94,153,318A/C—likely benign
rs37468590811:94,153,319G/C—conflicting classifications of pathogenicity
rs194513276211:94,153,321G/A—likely benign
rs87666015311:94,153,322T/C—uncertain significance
rs87666035111:94,153,324C/G—uncertain significance
rs194513300211:94,153,325A/G—uncertain significance
rs180536211:94,153,326T/A—uncertain significance
rs159162118911:94,153,327A/G—likely benign
rs249608934811:94,153,330A/G—likely benign
rs87665934911:94,153,332G/A—uncertain significance
rs155499671211:94,153,333A/T—uncertain significance
rs75895778811:94,153,335C/T—uncertain significance
rs128236671211:94,153,336A/G—likely benign
rs249608953111:94,153,337T/C—uncertain significance
rs155499671611:94,153,338C/G—uncertain significance
rs135452477911:94,153,339A/T—uncertain significance
rs249608963111:94,153,341C/T—uncertain significance
rs77809333711:94,153,342A/T—conflicting classifications of pathogenicity
rs87665897411:94,153,344C/G—uncertain significance
rs57601180211:94,153,347C/T—uncertain significance
rs249608981211:94,153,348C/G—uncertain significance
rs213473390011:94,153,350G/T—uncertain significance

Showing 100 of 1,590 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.