NOD2

nucleotide binding oligomerization domain containing 2

Summary

This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Known Variants894 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19947590616:50,730,331A/G—not provided
rs19947590716:50,730,780C/A—not provided
rs57783759516:50,730,867G/T—uncertain significance
rs19947590816:50,730,993T/C—not provided
rs19947590916:50,731,011C/T—not provided
rs19947591016:50,731,064G/C—not provided
rs207675216:50,731,096G/A—benign
rs13948598516:50,731,097T/C—likely benign
rs18834169216:50,731,102C/T—uncertain significance
rs11761122516:50,731,141C/T—likely benign
rs125563612516:50,731,155A/G—uncertain significance
rs76540692116:50,731,156T/C—uncertain significance
rs215077645916:50,731,157G/A—uncertain significance
rs97656782316:50,731,161G/C—uncertain significance
rs14097713016:50,731,167G/T—uncertain significance
rs250912150216:50,731,173T/G—uncertain significance
rs76456335016:50,731,176G/T—uncertain significance
rs37696689416:50,731,180C/T—uncertain significance
rs78148257616:50,731,184C/T—likely benign
rs74637929916:50,731,185G/A—uncertain significance
rs75453828716:50,731,186A/T—uncertain significance
rs14993920116:50,731,190G/A—likely benign
rs215077658716:50,731,191G/A—uncertain significance
rs196369415116:50,731,197A/G—uncertain significance
rs88605204316:50,731,206G/A—uncertain significance
rs14499310516:50,731,214C/T—conflicting classifications of pathogenicity
rs77167183916:50,731,215G/A—uncertain significance
rs14912271716:50,731,225C/T—conflicting classifications of pathogenicity
rs94765580816:50,731,226G/A—uncertain significance
rs57155936616:50,731,228G/A—uncertain significance
rs136157571816:50,731,233A/G—uncertain significance
rs138202347816:50,731,241G/C—likely benign
rs19947591116:50,731,378T/C—not provided
rs207675316:50,733,374G/T—benign
rs10489542116:50,733,392T/A—conflicting classifications of pathogenicity
rs250913035316:50,733,397A/T—uncertain significance
rs142771096016:50,733,398G/C—uncertain significance
rs56779325016:50,733,399G/C—uncertain significance
rs37104439316:50,733,400T/C—conflicting classifications of pathogenicity
rs37232175516:50,733,407A/G—uncertain significance
rs76877531616:50,733,414C/G—uncertain significance
rs77449131116:50,733,415G/A—likely benign
rs156738037216:50,733,428C/T—uncertain significance
rs129485554516:50,733,435A/G—uncertain significance
rs90392843216:50,733,437A/G—uncertain significance
rs10489548716:50,733,438G/T—not provided
rs156738039516:50,733,441G/A—uncertain significance
rs100093289816:50,733,445G/A—likely benign
rs76119147816:50,733,446C/G—uncertain significance
rs196382595516:50,733,448G/C—likely benign
rs196382612916:50,733,449G/C—uncertain significance
rs76681559216:50,733,451C/T—likely benign
rs20008955216:50,733,452G/A—likely benign
rs75791438116:50,733,456T/A—uncertain significance
rs250913087216:50,733,460G/A—likely benign
rs20158654416:50,733,465C/T—conflicting classifications of pathogenicity
rs75854818416:50,733,468G/C—uncertain significance
rs78116699516:50,733,474T/C—uncertain significance
rs74559707116:50,733,476G/T—uncertain significance
rs250913104016:50,733,483T/C—uncertain significance
rs76985513316:50,733,484C/T—likely benign
rs78020498516:50,733,485G/A—uncertain significance
rs250913134616:50,733,513G/A—uncertain significance
rs196383130716:50,733,519T/C—uncertain significance
rs76096254916:50,733,524T/C—uncertain significance
rs14614943316:50,733,525C/G—uncertain significance
rs75440250416:50,733,538C/T—likely benign
rs76006945816:50,733,539G/A—conflicting classifications of pathogenicity
rs13888123016:50,733,540A/G—uncertain significance
rs129006493716:50,733,545T/C—uncertain significance
rs77997001816:50,733,560C/T—uncertain significance
rs37073470716:50,733,563C/A—uncertain significance
rs140441662616:50,733,565T/C—likely benign
rs3493659416:50,733,566C/Gmissense variantpathogenic
rs196383551716:50,733,568C/T—conflicting classifications of pathogenicity
rs196383581016:50,733,571C/T—likely benign
rs196383595916:50,733,574C/T—likely benign
rs74820064016:50,733,581A/G—uncertain significance
rs77228714316:50,733,582G/A—uncertain significance
rs37412825116:50,733,584C/T—uncertain significance
rs98346591416:50,733,585G/A—uncertain significance
rs125868294816:50,733,589T/C—likely benign
rs128605248616:50,733,591T/A—uncertain significance
rs196383818216:50,733,592G/A—likely benign
rs74722145716:50,733,594A/T—uncertain significance
rs77133642316:50,733,595C/T—likely benign
rs14692325116:50,733,598C/T—likely benign
rs18726452916:50,733,599G/A—conflicting classifications of pathogenicity
rs76144947416:50,733,604G/A—uncertain significance
rs215078199716:50,733,608A/G—uncertain significance
rs147213832916:50,733,614A/G—uncertain significance
rs139895645516:50,733,622C/T—likely benign
rs75361937416:50,733,626C/G—uncertain significance
rs13804117516:50,733,628G/A—likely benign
rs91278986416:50,733,636T/C—uncertain significance
rs77884385816:50,733,637C/T—likely benign
rs11370634416:50,733,638G/A—conflicting classifications of pathogenicity
rs20205236516:50,733,639C/T—conflicting classifications of pathogenicity
rs10489541916:50,733,640G/A—likely benign
rs250913299116:50,733,647C/T—uncertain significance

Showing 100 of 894 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.