ACO2

aconitase 2

Summary

The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

Known Variants638 total

rsidPosition (GRCh37)AllelesClassClinVar
rs214606763222:41,864,647T/C—pathogenic
rs14315268722:41,865,033G/C—likely benign
rs142779240422:41,865,155C/T—uncertain significance
rs75874926922:41,865,157C/T—uncertain significance
rs156899665622:41,865,159C/T—likely benign
rs76926507322:41,865,166C/T—likely benign
rs74850942822:41,865,169C/G—uncertain significance
rs251818972522:41,865,171G/A—likely benign
rs14604886522:41,865,176C/T—uncertain significance
rs76719582522:41,865,181C/T—likely benign
rs113169175922:41,865,184C/T—pathogenic
rs251818975722:41,865,186G/A—likely pathogenic
rs251818975922:41,865,188T/A—likely pathogenic
rs148707498022:41,865,189G/A—uncertain significance
rs76019608122:41,865,193G/C—likely benign
rs92698133922:41,865,198C/G—likely benign
rs119352254822:41,865,199A/G—likely benign
rs145170075722:41,865,204C/A—likely benign
rs116717481322:41,865,206T/C—likely benign
rs11736932622:41,865,334G/A—benign
rs207619622:41,895,409G/A—benign
rs20156912022:41,895,745C/T—uncertain significance
rs20032705322:41,895,746G/A—uncertain significance
rs76666838222:41,895,753C/T—likely benign
rs75183955522:41,895,756T/C—likely benign
rs18823386322:41,895,765A/G—likely benign
rs105751883322:41,895,768C/T—uncertain significance
rs105751883222:41,895,769C/T—conflicting classifications of pathogenicity
rs15085054922:41,895,777A/G—likely benign
rs75655404922:41,895,779G/C—uncertain significance
rs214610615422:41,895,782C/T—uncertain significance
rs77827240022:41,895,783C/A—likely benign
rs74961125922:41,895,791C/T—uncertain significance
rs77128558922:41,895,792G/A—likely benign
rs133896699122:41,895,797G/C—uncertain significance
rs104985222:41,895,801C/T—likely benign
rs15078012622:41,895,810C/G—likely benign
rs13824120622:41,895,813C/T—likely benign
rs77597142422:41,895,814G/A—uncertain significance
rs206634109222:41,895,816G/T—uncertain significance
rs141496844322:41,895,826T/C—uncertain significance
rs251821095322:41,895,828T/G—pathogenic
rs251821096822:41,895,838G/A—uncertain significance
rs214610625022:41,895,847A/C—uncertain significance
rs206634130322:41,895,848T/C—uncertain significance
rs36969454322:41,895,854T/C—uncertain significance
rs53401692922:41,895,860G/A—uncertain significance
rs75146083122:41,895,865C/T—pathogenic
rs206634156722:41,895,866G/A—uncertain significance
rs214610628522:41,895,867G/T—likely pathogenic
rs206634161222:41,895,870A/G—uncertain significance
rs75967621322:41,895,876C/T—likely benign
rs11643821322:41,903,472C/T—likely benign
rs207619922:41,903,743G/T—benign
rs76943456922:41,903,787C/A—likely benign
rs206640466222:41,903,790C/A—likely benign
rs77322985022:41,903,802C/T—uncertain significance
rs77106043922:41,903,803G/A—uncertain significance
rs77398914322:41,903,804G/A—not provided
rs75939380922:41,903,806C/T—uncertain significance
rs76759207422:41,903,807G/A—likely benign
rs13783122:41,903,813A/C—benign
rs132445905722:41,903,818C/T—uncertain significance
rs88672943922:41,903,819G/A—likely benign
rs206640513322:41,903,824A/G—uncertain significance
rs88717897022:41,903,831G/A—likely benign
rs206640523122:41,903,833A/G—uncertain significance
rs206640529022:41,903,840C/G—uncertain significance
rs14177293822:41,903,841C/Gmissense variantpathogenic
rs251821671722:41,903,851C/T—uncertain significance
rs15059322722:41,903,852C/T—likely benign
rs75070570422:41,903,853G/A—uncertain significance
rs75882351822:41,903,857G/C—uncertain significance
rs18692264322:41,903,858C/A—uncertain significance
rs20069254022:41,903,866T/C—uncertain significance
rs206640566522:41,903,870G/C—uncertain significance
rs38790738922:41,903,871C/T—pathogenic
rs77742089522:41,903,881C/T—likely pathogenic
rs74885028322:41,903,882G/A—likely benign
rs53952493322:41,903,889C/T—uncertain significance
rs37397350222:41,903,890G/A—uncertain significance
rs74557953422:41,903,895C/T—uncertain significance
rs14776380022:41,903,896G/A—uncertain significance
rs138207210422:41,903,899C/T—uncertain significance
rs131298117722:41,903,900G/A—likely benign
rs14265109322:41,903,903C/T—likely benign
rs76433762722:41,903,906T/C—likely benign
rs251821680922:41,903,917A/G—uncertain significance
rs132458280822:41,903,918G/A—likely benign
rs206640619322:41,903,919G/A—uncertain significance
rs138933669522:41,903,923C/T—uncertain significance
rs133616270222:41,903,924G/A—likely benign
rs251821681822:41,903,926C/T—uncertain significance
rs77666886722:41,903,927G/A—likely benign
rs214611581022:41,903,938C/T—uncertain significance
rs251821683822:41,903,940A/C—uncertain significance
rs251821684622:41,903,946C/T—pathogenic
rs37738454022:41,903,948G/A—likely benign
rs206640641722:41,903,951C/G—uncertain significance
rs78620092422:41,903,957C/Gmissense variantpathogenic

Showing 100 of 638 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.