NLRP1

NLR family pyrin domain containing 1

Summary

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Known Variants860 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19947570517:5,404,783A/T—not provided
rs7334125817:5,407,106C/Tintron variant—
rs19090034017:5,408,114G/Aintron variant—
rs807903417:5,412,361C/Tregulatory region variant—
rs76346963617:5,418,075C/T—likely benign
rs250769170617:5,418,080G/C—uncertain significance
rs76666732217:5,418,089C/G—likely benign
rs20188287317:5,418,093A/T—uncertain significance
rs75621318217:5,418,097C/T—uncertain significance
rs190786956317:5,418,100T/C—uncertain significance
rs7492985317:5,418,107G/A—benign
rs20163884317:5,418,125C/G—uncertain significance
rs96034083717:5,418,138G/A—uncertain significance
rs19993178417:5,418,149C/T—likely benign
rs117267680417:5,418,170A/T—uncertain significance
rs20116759017:5,418,183C/T—uncertain significance
rs215173229217:5,418,184G/A—uncertain significance
rs36814446517:5,418,194C/A—uncertain significance
rs75293416817:5,418,204C/A—uncertain significance
rs250769244417:5,418,208A/C—uncertain significance
rs18402387017:5,418,216C/T—uncertain significance
rs75401464017:5,418,217G/T—likely benign
rs215173234717:5,418,228G/A—uncertain significance
rs20075225717:5,418,233C/T—likely benign
rs74689349317:5,418,234G/A—uncertain significance
rs20187822417:5,418,236G/T—uncertain significance
rs250769268617:5,418,254C/T—likely benign
rs20003769717:5,418,257G/A—likely benign
rs76787742017:5,418,284A/G—likely benign
rs77576200017:5,418,288A/G—uncertain significance
rs76102142517:5,418,297A/C—uncertain significance
rs20083313617:5,418,305C/G—uncertain significance
rs20203272117:5,418,309A/G—uncertain significance
rs120098645217:5,418,310C/T—uncertain significance
rs75277965117:5,418,311C/T—likely benign
rs20035236717:5,418,312G/A—uncertain significance
rs159739036917:5,418,315G/T—uncertain significance
rs20158831117:5,418,321C/T—uncertain significance
rs20221217717:5,418,322G/A—uncertain significance
rs53998557417:5,418,324G/T—uncertain significance
rs250769322617:5,418,330A/T—uncertain significance
rs77752024117:5,418,339C/T—uncertain significance
rs86864115817:5,418,340G/A—uncertain significance
rs215173251917:5,418,347G/A—likely benign
rs122398975917:5,418,367G/A—uncertain significance
rs19984294417:5,418,368C/T—likely benign
rs18860461717:5,418,372G/C—uncertain significance
rs19977670217:5,418,374A/G—likely benign
rs250769363117:5,418,381G/T—uncertain significance
rs77596030517:5,418,385A/T—uncertain significance
rs18135829217:5,418,391C/T—uncertain significance
rs19961980917:5,418,401C/T—likely benign
rs75779494617:5,418,402G/A—likely benign
rs19947621917:5,418,554T/C—not provided
rs250769601017:5,418,773C/A—likely benign
rs20132014717:5,418,775C/T—benign
rs37077186117:5,418,776T/C—likely benign
rs75270127517:5,418,785T/C—likely benign
rs36798196817:5,418,798C/T—uncertain significance
rs213772217:5,418,799A/G—likely benign
rs75705991517:5,418,800G/A—likely benign
rs139524378117:5,418,808G/A—uncertain significance
rs215173334017:5,418,809G/A—likely benign
rs20108763317:5,418,843G/A—likely benign
rs20213540317:5,418,855T/A—likely benign
rs650286717:5,420,328C/G——
rs19947621817:5,420,849A/G—not provided
rs19947621717:5,420,861C/G—not provided
rs5675012917:5,421,005T/A—benign
rs5956497617:5,421,006A/C—benign
rs250770831617:5,421,052T/G—likely benign
rs19009594117:5,421,058G/C—likely benign
rs75450119717:5,421,065C/T—uncertain significance
rs250770842417:5,421,070T/C—likely benign
rs135498761617:5,421,095G/A—uncertain significance
rs250770871017:5,421,108T/C—uncertain significance
rs190835107217:5,421,109G/C—uncertain significance
rs159739360617:5,421,117C/G—uncertain significance
rs90232439017:5,421,141A/G—likely benign
rs77468949617:5,421,143T/C—uncertain significance
rs19968705217:5,421,149A/G—uncertain significance
rs14471160217:5,421,150C/T—likely benign
rs95385558417:5,421,151G/A—likely benign
rs128968181317:5,421,161G/A—uncertain significance
rs76503131817:5,421,177C/T—uncertain significance
rs20138546217:5,421,178T/C—likely benign
rs19980882017:5,421,181A/G—likely benign
rs76537779017:5,421,188C/T—uncertain significance
rs75448947217:5,421,189G/A—uncertain significance
rs14152265517:5,421,193G/T—uncertain significance
rs20071336017:5,421,201C/G—uncertain significance
rs6207272817:5,421,216G/A—likely benign
rs1293722417:5,424,042C/T—benign
rs19947621617:5,424,080C/G—not provided
rs1294646717:5,424,129C/G—benign
rs37697660017:5,424,187A/C—likely benign
rs250772694717:5,424,192G/A—likely benign
rs14319673217:5,424,203T/G—uncertain significance
rs123075944217:5,424,221T/C—uncertain significance
rs181698175017:5,424,222C/T—likely benign

Showing 100 of 860 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.