PNLIP

pancreatic lipase

Summary

This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]

Known Variants187 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78125774010:118,305,608C/T—likely benign
rs249304129810:118,305,612C/T—uncertain significance
rs36967794610:118,305,616T/G—likely benign
rs15104405510:118,305,634G/A—likely benign
rs74861737810:118,305,642C/T—uncertain significance
rs77390715210:118,305,669G/A—likely benign
rs184713619510:118,306,790T/G—likely benign
rs249304291910:118,306,793T/C—likely benign
rs77157959810:118,306,798G/C—likely benign
rs249304305810:118,306,818G/T—uncertain significance
rs76521782910:118,306,822C/T—likely benign
rs56862934110:118,306,823G/A—uncertain significance
rs76425971010:118,306,829C/T—uncertain significance
rs7624603910:118,306,855A/C—benign
rs76040868610:118,306,858G/A—pathogenic
rs20022204910:118,306,870G/A—likely benign
rs249304322010:118,306,874A/G—uncertain significance
rs249304322710:118,306,875G/A—uncertain significance
rs184713829310:118,306,883C/T—uncertain significance
rs249304328110:118,306,888A/G—uncertain significance
rs14469928410:118,306,890T/G—uncertain significance
rs14851115510:118,306,909T/C—likely benign
rs14274969410:118,306,919C/G—uncertain significance
rs75338145110:118,306,920G/T—uncertain significance
rs7641532110:118,306,931T/C—likely benign
rs14715487110:118,306,934A/G—likely benign
rs1154915910:118,306,939T/C—likely benign
rs116884469010:118,306,946C/T—uncertain significance
rs11805216810:118,306,948A/C—likely benign
rs76408264510:118,307,880C/T—likely benign
rs37456394610:118,307,881G/A—uncertain significance
rs1154916010:118,307,885A/G—uncertain significance
rs115794993510:118,307,907C/T—likely benign
rs74723424410:118,307,951T/C—uncertain significance
rs76872751510:118,307,985T/C—likely benign
rs249304537510:118,308,000A/T—uncertain significance
rs76147143910:118,308,004G/A—likely benign
rs76703780910:118,308,005G/A—likely benign
rs53812292610:118,310,596G/T—likely benign
rs14337880210:118,310,605A/G—likely benign
rs249304855310:118,310,615G/A—likely benign
rs75995249010:118,310,631G/A—uncertain significance
rs184718586410:118,310,645T/C—likely benign
rs76445764710:118,310,658G/A—uncertain significance
rs129745836910:118,310,665C/T—uncertain significance
rs78162586010:118,310,668G/A—uncertain significance
rs249304869310:118,310,685G/A—uncertain significance
rs77881585710:118,310,689C/T—uncertain significance
rs14715143810:118,310,690G/A—likely benign
rs249304872510:118,310,699C/T—likely benign
rs13872092010:118,310,705C/A—likely benign
rs77594434110:118,310,706G/T—uncertain significance
rs37633252310:118,310,712G/T—uncertain significance
rs76203897110:118,310,721G/T—uncertain significance
rs76665373410:118,310,747A/G—uncertain significance
rs75812696510:118,310,754C/T—likely benign
rs77782494910:118,310,756C/T—likely benign
rs74689939210:118,310,757G/A—likely benign
rs76468969510:118,313,233C/T—likely benign
rs75826406710:118,313,234G/A—likely benign
rs141289697410:118,313,236C/T—uncertain significance
rs249305242310:118,313,238G/A—likely pathogenic
rs76376584310:118,313,240C/T—uncertain significance
rs56543919110:118,313,244G/A—likely benign
rs11179056710:118,313,247C/T—benign
rs144330837810:118,313,248G/A—uncertain significance
rs14886496310:118,313,249G/A—uncertain significance
rs77981329810:118,313,254T/G—uncertain significance
rs105722351410:118,313,258C/A—uncertain significance
rs291574810:118,313,265T/C—benign
rs77271247110:118,313,271T/G—uncertain significance
rs133996288310:118,313,305G/A—uncertain significance
rs184722131710:118,313,307G/A—likely benign
rs249305266210:118,313,324C/T—uncertain significance
rs139815895610:118,313,327A/G—uncertain significance
rs7853686210:118,313,336T/C—benign
rs19995706710:118,313,341C/T—uncertain significance
rs94134858110:118,313,342G/A—uncertain significance
rs76750886010:118,313,350G/A—uncertain significance
rs184722207110:118,313,351G/T—likely pathogenic
rs56431050310:118,313,355G/A—uncertain significance
rs36803917210:118,313,360A/G—benign
rs37119252210:118,313,363A/G—likely benign
rs249305276210:118,313,367A/G—likely benign
rs76628751610:118,314,721C/G—likely benign
rs20078688210:118,314,751C/T—likely benign
rs249305496110:118,314,768A/G—uncertain significance
rs74600032710:118,314,780C/Tmissense variantpathogenic
rs13795830010:118,314,781G/A—likely benign
rs37315470810:118,314,790C/T—likely benign
rs78124552410:118,314,792C/T—uncertain significance
rs53368300210:118,314,804A/G—uncertain significance
rs77662080410:118,314,807T/G—uncertain significance
rs184724109510:118,314,825C/T—likely benign
rs7282561010:118,314,826G/A—likely benign
rs74684032710:118,314,881T/C—likely benign
rs18949960310:118,314,884A/G—benign
rs249305521910:118,314,900G/T—uncertain significance
rs74564120710:118,314,901G/A—likely benign
rs14115899710:118,314,907A/T—likely benign

Showing 100 of 187 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.