NLRP2

NLR family pyrin domain containing 2

Summary

This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Known Variants217 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20185930819:55,481,391C/T—uncertain significance
rs14246301419:55,481,394C/T—benign
rs37116761019:55,481,397C/T—uncertain significance
rs26991219:55,481,398G/A—benign
rs7567877619:55,481,455C/G—benign
rs77571499219:55,481,475C/T—uncertain significance
rs14077805219:55,481,486C/T—likely benign
rs36792222319:55,481,494C/G—uncertain significance
rs76019757319:55,481,495G/A—uncertain significance
rs207075220819:55,481,523T/C—uncertain significance
rs20081556719:55,481,530G/A—likely benign
rs19971174519:55,481,596G/A—likely benign
rs19947570619:55,481,622A/C—not provided
rs135160125819:55,481,623C/G—uncertain significance
rs13844577719:55,481,625G/A—uncertain significance
rs20158775519:55,481,670G/A—likely benign
rs19947570719:55,481,756C/A—not provided
rs19947570819:55,481,883C/T—not provided
rs19947570919:55,485,848C/T—not provided
rs19947571019:55,485,915A/C—not provided
rs19947571119:55,486,041G/A—not provided
rs19947571219:55,489,052A/G—not provided
rs74742102819:55,489,129G/A—uncertain significance
rs14753057419:55,489,151C/T—likely benign
rs36893693119:55,489,152G/A—uncertain significance
rs76628165019:55,489,157C/A—likely benign
rs77868143119:55,489,170C/T—uncertain significance
rs37353881219:55,489,171G/A—likely benign
rs36808235719:55,489,189A/T—likely benign
rs251658534719:55,492,979T/G—uncertain significance
rs14514551519:55,492,986G/C—benign
rs139283971319:55,493,003G/A—likely benign
rs251659072919:55,493,542G/A—likely benign
rs36873568419:55,493,548G/A—uncertain significance
rs56214763019:55,493,570C/G—uncertain significance
rs141764586219:55,493,596G/T—uncertain significance
rs13969246819:55,493,615G/A—likely benign
rs251659238919:55,493,644T/G—uncertain significance
rs1040364819:55,493,651C/T—benign
rs56884724619:55,493,672C/T—likely benign
rs76341157119:55,493,678C/T—likely benign
rs13927908919:55,493,687C/T—likely benign
rs37177420219:55,493,693G/T—likely benign
rs1769967819:55,493,728T/C—benign
rs117461237619:55,493,751G/T—uncertain significance
rs53185631219:55,493,757G/T—uncertain significance
rs14115730419:55,493,795C/G—uncertain significance
rs37592226119:55,493,830C/G—uncertain significance
rs15113202919:55,493,831G/A—likely benign
rs119429577419:55,493,839T/C—pathogenic
rs5607357219:55,493,847T/C—benign
rs207165142819:55,493,858G/A—likely benign
rs55560320119:55,493,877G/A—likely benign
rs134008436419:55,493,899C/T—uncertain significance
rs14709816519:55,493,921C/T—likely benign
rs14962795919:55,493,962C/T—uncertain significance
rs14439737119:55,493,969C/T—likely benign
rs374590419:55,493,970G/C—likely benign
rs75377674819:55,494,003C/A—uncertain significance
rs6173508019:55,494,005G/A—likely benign
rs56177458319:55,494,012G/A—uncertain significance
rs37191095319:55,494,018C/T—likely benign
rs37562112119:55,494,056C/A—likely benign
rs76749994619:55,494,060C/T—likely benign
rs75660299819:55,494,072A/G—uncertain significance
rs14973596119:55,494,076G/A—conflicting classifications of pathogenicity
rs19947571319:55,494,086C/A—likely benign
rs14881792919:55,494,111G/T—uncertain significance
rs14252855119:55,494,114G/C—benign
rs19947571419:55,494,119G/A—not provided
rs14758549019:55,494,121T/G—likely benign
rs6173507719:55,494,126A/G—likely benign
rs143346662119:55,494,134G/A—likely benign
rs6212464419:55,494,141T/C—benign
rs74924294819:55,494,155C/T—likely benign
rs430664719:55,494,157G/A—likely benign
rs207169197819:55,494,166A/G—uncertain significance
rs251660211419:55,494,178A/C—uncertain significance
rs214643435219:55,494,181T/C—uncertain significance
rs382688319:55,494,188C/T—benign
rs18940310119:55,494,204C/T—benign
rs77672013019:55,494,232C/T—uncertain significance
rs7923133919:55,494,260C/T—likely benign
rs19947571519:55,494,275C/T—likely benign
rs13990354719:55,494,283C/G—likely benign
rs14218085719:55,494,284G/A—likely benign
rs54740067019:55,494,286C/T—uncertain significance
rs251660450619:55,494,292A/G—uncertain significance
rs53281221119:55,494,309G/A—uncertain significance
rs6173507819:55,494,320G/C—likely benign
rs75222002319:55,494,329C/G—likely benign
rs76241846719:55,494,332C/G—uncertain significance
rs54881494219:55,494,340G/T—uncertain significance
rs126245673419:55,494,349T/C—uncertain significance
rs76116190419:55,494,366T/C—uncertain significance
rs76946438819:55,494,368C/T—likely benign
rs36865860119:55,494,372C/T—uncertain significance
rs76252205019:55,494,379C/T—uncertain significance
rs207172229119:55,494,383G/T—uncertain significance
rs77267548419:55,494,399G/C—uncertain significance

Showing 100 of 217 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.