PLCB1

phospholipase C beta 1

Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,010 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93249120:8,111,284T/A——
rs53230207520:8,112,969C/T—conflicting classifications of pathogenicity
rs137038915520:8,112,988T/G—uncertain significance
rs160018661520:8,113,003A/G—uncertain significance
rs160018667320:8,113,077C/G—uncertain significance
rs13996283520:8,113,129C/A—likely benign
rs54863543320:8,113,131G/A—uncertain significance
rs76452315420:8,113,298G/C—uncertain significance
rs75216883920:8,113,304C/G—likely benign
rs75755850620:8,113,310T/C—likely benign
rs212299180020:8,113,311C/G—uncertain significance
rs78165070620:8,113,313A/T—uncertain significance
rs74549748520:8,113,316C/T—likely benign
rs124306776620:8,113,318G/T—uncertain significance
rs58778041820:8,113,319A/C—uncertain significance
rs156856418720:8,113,320G/T—uncertain significance
rs15024134920:8,113,326G/T—conflicting classifications of pathogenicity
rs156856419820:8,113,327C/T—uncertain significance
rs75979468620:8,113,329T/G—uncertain significance
rs77565506320:8,113,340G/A—likely benign
rs54017450620:8,113,343C/G—likely benign
rs76243178520:8,113,352G/A—likely benign
rs212299200020:8,113,360G/A—uncertain significance
rs125695786820:8,113,361C/T—likely benign
rs205130475420:8,113,365A/G—benign
rs75354377820:8,113,371G/C—uncertain significance
rs55371121320:8,113,376C/A—likely benign
rs77208186220:8,113,387A/G—uncertain significance
rs77764742420:8,113,388G/A—likely benign
rs608635020:8,113,405T/C—likely benign
rs76327660920:8,113,409G/C—likely benign
rs37035524920:8,113,411C/T—likely benign
rs37256288020:8,113,412G/A—likely benign
rs251455594520:8,113,416C/T—likely benign
rs54069388920:8,113,417G/A—likely benign
rs611808320:8,114,704A/Gintron variant—
rs14114002620:8,130,658G/A—likely benign
rs37081069420:8,130,924T/C—likely benign
rs1699445320:8,130,943C/T—likely benign
rs37775022520:8,130,947A/G—uncertain significance
rs148394589620:8,130,948C/G—uncertain significance
rs251457784920:8,130,954T/C—uncertain significance
rs14630419820:8,130,955T/C—likely benign
rs75152031220:8,130,957C/T—uncertain significance
rs37149978620:8,130,958T/C—likely benign
rs19110660620:8,130,962A/G—uncertain significance
rs37440241220:8,130,970G/A—likely benign
rs36851073020:8,130,979C/T—likely benign
rs74968050320:8,131,000C/T—likely benign
rs212303260720:8,131,012A/C—uncertain significance
rs212303262720:8,131,016A/G—uncertain significance
rs205149765920:8,131,026A/G—likely benign
rs212303265720:8,131,028G/A—likely benign
rs205149767920:8,131,031G/A—likely benign
rs212303267920:8,131,034T/C—likely benign
rs5990344120:8,156,391T/Cintron variant—
rs605568520:8,213,786G/Aintron variant—
rs6080060220:8,226,677C/Tupstream gene variant—
rs274576120:8,277,943G/T——
rs53926751620:8,303,101G/T——
rs605574520:8,312,279T/Aregulatory region variant—
rs75863840120:8,352,013C/T—likely benign
rs605577520:8,352,014G/A—likely benign
rs212234348120:8,352,026C/T—uncertain significance
rs251478384520:8,352,027A/G—likely pathogenic
rs77017271620:8,352,037G/A—likely benign
rs212234355120:8,352,040A/G—likely benign
rs212234358420:8,352,047C/T—uncertain significance
rs156865060820:8,352,049C/T—likely benign
rs198689932520:8,352,050A/C—uncertain significance
rs77574232520:8,352,051G/A—uncertain significance
rs120884684920:8,352,055T/G—likely benign
rs251478388920:8,352,060A/G—uncertain significance
rs212234364020:8,352,065G/A—uncertain significance
rs251478391520:8,352,074G/A—uncertain significance
rs77393790720:8,352,082C/T—likely benign
rs76139325320:8,352,083G/A—uncertain significance
rs212234380020:8,352,093C/T—uncertain significance
rs160035086020:8,352,096A/T—uncertain significance
rs212234388220:8,352,106T/C—likely benign
rs20098450020:8,352,109A/G—conflicting classifications of pathogenicity
rs77796319620:8,352,116T/G—likely benign
rs54779049320:8,352,123A/G—likely benign
rs14890769120:8,352,255T/C—likely benign
rs7309024420:8,389,162T/A—benign
rs70891520:8,400,667T/G——
rs14417666620:8,414,010G/C—likely benign
rs81176620:8,414,044C/G—benign
rs81130220:8,414,091A/G—benign
rs7639415020:8,414,143A/G—likely benign
rs220731220:8,439,060G/C—benign
rs6142942920:8,439,302G/A—benign
rs7748138820:8,439,304G/A—benign
rs614061920:8,439,343C/T—benign
rs481386220:8,439,368A/G—benign
rs1262519220:8,505,149G/C——
rs7359828220:8,508,498G/Aintron variant—
rs76100820:8,555,526T/A——
rs610816020:8,572,225G/Aintron variant—
rs37318252320:8,593,125G/A——

Showing 100 of 1,010 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.