PLCG2

phospholipase C gamma 2

Summary

The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]

Known Variants1,280 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7972620016:81,811,678C/T——
rs435492916:81,819,486C/G—benign
rs19997209816:81,819,605C/T—likely benign
rs37694906416:81,819,606G/C—uncertain significance
rs55617447516:81,819,607G/T—uncertain significance
rs20200204116:81,819,611A/G—uncertain significance
rs250734368516:81,819,617A/T—uncertain significance
rs77277813616:81,819,621C/A—likely benign
rs75345824916:81,819,626C/T—uncertain significance
rs250734375516:81,819,636G/A—likely benign
rs76452408516:81,819,640A/G—uncertain significance
rs75201896616:81,819,642C/G—uncertain significance
rs75782601716:81,819,644A/T—uncertain significance
rs36954235416:81,819,651G/A—likely benign
rs191095513516:81,819,653G/A—uncertain significance
rs124811139116:81,819,655G/T—uncertain significance
rs250734385616:81,819,656C/T—uncertain significance
rs37423518916:81,819,657C/T—likely benign
rs142348702716:81,819,658C/A—uncertain significance
rs75616786216:81,819,666G/C—likely benign
rs250734390416:81,819,669G/T—likely benign
rs18930179016:81,819,671C/T—conflicting classifications of pathogenicity
rs74943714116:81,819,672G/C—likely benign
rs6174904416:81,819,676A/T—likely benign
rs37250255016:81,819,682G/T—conflicting classifications of pathogenicity
rs191095685016:81,819,684G/C—likely benign
rs131468072316:81,819,688A/C—uncertain significance
rs123821938916:81,819,689G/A—uncertain significance
rs77304013916:81,819,691T/C—conflicting classifications of pathogenicity
rs53720446916:81,819,695G/A—uncertain significance
rs131944899816:81,819,696C/G—likely benign
rs191095787016:81,819,699G/A—uncertain significance
rs250734405016:81,819,701C/G—uncertain significance
rs14734933216:81,819,704C/A—likely benign
rs76228029516:81,819,705C/T—likely benign
rs75092432216:81,819,708C/T—likely benign
rs143714549616:81,819,711G/A—likely benign
rs191095900916:81,819,714G/C—likely benign
rs75397279916:81,819,720C/G—likely benign
rs37035296216:81,819,721G/T—uncertain significance
rs36813788916:81,819,727G/A—uncertain significance
rs102363669716:81,819,732C/A—likely benign
rs123199744216:81,819,740C/T—uncertain significance
rs96976855516:81,819,741G/A—likely benign
rs37024290116:81,819,743G/A—uncertain significance
rs37068343216:81,819,744G/A—likely benign
rs77530339516:81,819,747G/C—uncertain significance
rs53267837816:81,819,751G/A—uncertain significance
rs142487945016:81,819,762G/A—likely benign
rs37435486316:81,819,765C/T—likely benign
rs75384566116:81,819,767C/T—uncertain significance
rs114368516:81,819,768T/C—benign
rs55365782216:81,819,777C/G—uncertain significance
rs75869044216:81,819,797C/T—likely benign
rs77740850216:81,819,798G/A—likely benign
rs429481116:81,819,820A/G—benign
rs1333803716:81,874,986C/Gintron variant—
rs15109866016:81,875,091C/Aintron variant—
rs1293276116:81,887,820T/C—benign
rs11686694016:81,887,859C/G—benign
rs407283116:81,887,903A/G—benign
rs452241216:81,887,938T/C—benign
rs407283016:81,887,957C/A—benign
rs3402833816:81,887,977G/C—benign
rs120357374116:81,888,030C/G—likely benign
rs190657909916:81,888,033G/A—likely benign
rs77554335616:81,888,040T/A—likely benign
rs76310040116:81,888,041C/T—likely benign
rs115690403316:81,888,046T/C—uncertain significance
rs90589673116:81,888,052A/C—uncertain significance
rs18440950716:81,888,057A/T—uncertain significance
rs53484554616:81,888,062A/C—uncertain significance
rs75611338316:81,888,063A/G—uncertain significance
rs214347486716:81,888,071A/C—uncertain significance
rs190658109016:81,888,074C/G—uncertain significance
rs75322728216:81,888,077C/T—likely benign
rs118648076216:81,888,080A/C—likely benign
rs77839349816:81,888,083G/C—likely benign
rs214347494316:81,888,096G/A—uncertain significance
rs77176401216:81,888,101C/T—likely benign
rs250750981516:81,888,103A/G—uncertain significance
rs190658319616:81,888,109C/G—uncertain significance
rs133381644116:81,888,119T/G—likely benign
rs19963885916:81,888,120C/T—uncertain significance
rs76290086016:81,888,121G/A—uncertain significance
rs130720296016:81,888,128A/G—likely benign
rs76208094216:81,888,136G/A—uncertain significance
rs134337848016:81,888,144A/G—uncertain significance
rs76791444916:81,888,146C/T—likely benign
rs127322470116:81,888,147A/G—uncertain significance
rs250751007916:81,888,150C/T—likely benign
rs114368616:81,888,152G/A—likely benign
rs99196549516:81,888,159A/G—uncertain significance
rs76636849716:81,888,164G/T—uncertain significance
rs75384807016:81,888,167C/T—likely benign
rs75491480716:81,888,168G/A—conflicting classifications of pathogenicity
rs75221138516:81,888,170C/T—likely benign
rs37705825116:81,888,174A/G—uncertain significance
rs53571502016:81,888,178C/T—likely benign
rs18928230916:81,888,179G/C—likely benign

Showing 100 of 1,280 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.