PLCE1

phospholipase C epsilon 1

Summary

This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]

Known Variants575 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1159967210:95,752,776T/Gupstream gene variant—
rs127026504310:95,753,740C/T—uncertain significance
rs291185710:95,753,822A/G—benign
rs57325571310:95,753,843G/A—uncertain significance
rs7563960910:95,753,855T/C—benign
rs88604749010:95,753,912A/G—uncertain significance
rs104545635510:95,753,921G/A—uncertain significance
rs88604749110:95,753,947G/T—uncertain significance
rs11531679010:95,790,302C/T—likely benign
rs53359523310:95,790,453T/G—uncertain significance
rs1750637910:95,790,517G/A—likely benign
rs206154230610:95,790,547G/T—uncertain significance
rs13906112210:95,790,558A/G—likely benign
rs18391956010:95,790,639T/C—likely benign
rs18646848310:95,790,644G/A—likely benign
rs1088238610:95,790,669G/A—benign
rs92103896110:95,790,741C/T—uncertain significance
rs4129112210:95,790,750G/T—uncertain significance
rs55405281910:95,790,756C/G—uncertain significance
rs1118777110:95,790,757A/G—likely benign
rs36894555810:95,790,794T/G—uncertain significance
rs55840944410:95,790,875G/A—conflicting classifications of pathogenicity
rs75289502110:95,790,942A/C—uncertain significance
rs76157597310:95,790,977C/T—conflicting classifications of pathogenicity
rs36776239710:95,791,027T/C—uncertain significance
rs6174923810:95,791,030C/A—uncertain significance
rs36829651010:95,791,033G/A—uncertain significance
rs249361400010:95,791,037G/C—uncertain significance
rs37260907110:95,791,048G/A—uncertain significance
rs37583517310:95,791,052T/A—uncertain significance
rs36979046810:95,791,085C/T—likely benign
rs76105581010:95,791,099C/T—uncertain significance
rs76844393310:95,791,100G/A—likely benign
rs88604749310:95,791,126A/G—uncertain significance
rs75397995610:95,791,200G/T—uncertain significance
rs57336029010:95,791,243A/G—uncertain significance
rs75842094610:95,791,244G/A—conflicting classifications of pathogenicity
rs75114397410:95,791,252C/T—uncertain significance
rs88604749410:95,791,262A/G—uncertain significance
rs6174923910:95,791,316G/A—conflicting classifications of pathogenicity
rs77135510110:95,791,340C/T—likely benign
rs88604749510:95,791,379A/C—uncertain significance
rs120480893210:95,791,386A/G—uncertain significance
rs77743686510:95,791,402C/T—conflicting classifications of pathogenicity
rs132860537210:95,791,413C/G—uncertain significance
rs78059148610:95,791,424C/T—benign
rs20111714510:95,791,436C/T—conflicting classifications of pathogenicity
rs77658376910:95,791,437G/A—uncertain significance
rs14906463210:95,791,445A/T—conflicting classifications of pathogenicity
rs120940540010:95,791,452G/T—uncertain significance
rs88603862510:95,791,454A/G—likely benign
rs103439010810:95,791,461C/T—uncertain significance
rs37321508810:95,791,467G/C—benign
rs77449769410:95,791,476A/G—conflicting classifications of pathogenicity
rs88604749610:95,791,502T/C—uncertain significance
rs130439853110:95,791,516T/C—uncertain significance
rs88604749710:95,791,527A/C—uncertain significance
rs37413723510:95,791,536G/A—uncertain significance
rs146403430410:95,791,548G/A—uncertain significance
rs119392290410:95,791,551C/A—uncertain significance
rs78169356510:95,791,559G/T—uncertain significance
rs6174924010:95,791,566C/T—uncertain significance
rs249362434910:95,791,587A/C—uncertain significance
rs37456118010:95,791,602G/C—uncertain significance
rs18711222310:95,791,612G/C—uncertain significance
rs1710967110:95,791,613T/C—benign
rs206156591710:95,791,629G/T—uncertain significance
rs120904183710:95,791,646C/G—uncertain significance
rs19208419510:95,791,680G/T—conflicting classifications of pathogenicity
rs74926072010:95,791,686A/G—uncertain significance
rs76115818810:95,791,712C/T—likely benign
rs77393445810:95,791,726A/G—uncertain significance
rs76490767510:95,791,730T/C—uncertain significance
rs249362695610:95,791,731G/A—uncertain significance
rs53423087310:95,791,742C/T—likely benign
rs20100334110:95,791,743G/A—uncertain significance
rs88604749810:95,791,753G/A—uncertain significance
rs1710967410:95,791,763G/A—benign
rs26760695410:95,791,764C/Tstop gainedpathogenic
rs20151239210:95,791,765G/A—uncertain significance
rs249362805810:95,791,800G/C—uncertain significance
rs138998696310:95,791,837G/A—uncertain significance
rs56487938910:95,791,884T/C—uncertain significance
rs37262121910:95,791,893A/G—conflicting classifications of pathogenicity
rs76451173010:95,791,912G/A—uncertain significance
rs37163578610:95,791,915C/G—uncertain significance
rs36874511710:95,791,935G/C—uncertain significance
rs87665736910:95,791,949——pathogenic
rs213450410810:95,791,951C/A—pathogenic
rs76121316810:95,791,983C/T—conflicting classifications of pathogenicity
rs76225986510:95,791,988G/A—likely benign
rs206157336710:95,791,996C/G—uncertain significance
rs20140136310:95,792,004T/C—uncertain significance
rs792261210:95,811,439C/Tupstream gene variant—
rs394575010:95,826,895C/T——
rs14244732610:95,848,747T/G—likely benign
rs13976826410:95,848,842G/A—benign
rs77177141610:95,848,900G/A—uncertain significance
rs14417980710:95,848,918G/T—uncertain significance
rs18404300610:95,849,027C/T—likely benign

Showing 100 of 575 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.