PDE3A

phosphodiesterase 3A

Summary

This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Known Variants221 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1084149612:20,521,654C/Aregulatory region variant—
rs11397248712:20,522,213T/G—benign
rs98678173712:20,522,223C/T—uncertain significance
rs36794548412:20,522,242A/G—benign
rs76742584912:20,522,243C/G—uncertain significance
rs1230503812:20,522,252A/G—benign
rs75403458412:20,522,264C/T—uncertain significance
rs55983305612:20,522,291G/A—uncertain significance
rs249791170112:20,522,295G/A—uncertain significance
rs145142744212:20,522,298G/A—uncertain significance
rs103860738312:20,522,309C/T—uncertain significance
rs77129690512:20,522,321C/T—uncertain significance
rs76133266012:20,522,359G/A—uncertain significance
rs212047556612:20,522,387A/G—uncertain significance
rs117934363912:20,522,418C/T—uncertain significance
rs75208519612:20,522,430C/G—uncertain significance
rs100814926312:20,522,448T/A—uncertain significance
rs7971676312:20,522,449G/A—benign
rs96405231812:20,522,460T/C—uncertain significance
rs77029974512:20,522,464C/T—likely benign
rs37295353712:20,522,487A/G—conflicting classifications of pathogenicity
rs76504587412:20,522,503G/A—benign
rs20005200112:20,522,511C/G—uncertain significance
rs20113276812:20,522,514A/C—likely benign
rs53058342812:20,522,529C/T—uncertain significance
rs7724660912:20,522,536A/G—benign
rs78061230312:20,522,542A/G—likely benign
rs77650911412:20,522,558G/A—uncertain significance
rs76955674412:20,522,562C/G—uncertain significance
rs36935089112:20,522,599C/T—likely benign
rs14588754112:20,522,620G/T—likely benign
rs194342558112:20,522,637T/A—uncertain significance
rs20205066612:20,522,656G/A—uncertain significance
rs212047893812:20,522,672C/A—uncertain significance
rs98293350912:20,522,676C/T—uncertain significance
rs20101349412:20,522,677C/T—likely benign
rs75119333712:20,522,683G/A—likely benign
rs14960474012:20,522,723G/T—likely benign
rs76078757112:20,522,724G/C—uncertain significance
rs14429618912:20,522,725G/T—uncertain significance
rs77965771712:20,522,737C/A—likely benign
rs77026891212:20,522,787C/T—uncertain significance
rs145018044212:20,522,793G/A—uncertain significance
rs76042747412:20,522,795G/C—uncertain significance
rs14145791412:20,522,796T/C—likely benign
rs20169182312:20,522,803C/T—likely benign
rs76521303612:20,522,811T/G—uncertain significance
rs75271176212:20,522,814C/T—uncertain significance
rs194343249112:20,522,827G/T—uncertain significance
rs13839340912:20,522,835T/C—likely benign
rs14532217012:20,522,851C/T—benign
rs77616578612:20,522,858A/G—uncertain significance
rs6172938612:20,522,878G/T—benign
rs194343429712:20,522,879G/A—uncertain significance
rs14450051812:20,522,913T/A—uncertain significance
rs249791472212:20,522,921G/T—uncertain significance
rs249791477512:20,522,936C/G—uncertain significance
rs57532865912:20,522,950C/T—likely benign
rs14844316012:20,522,979A/G—likely benign
rs194343692412:20,523,000A/G—uncertain significance
rs249791499912:20,523,005G/A—uncertain significance
rs56061986512:20,523,010G/A—likely benign
rs76808329112:20,523,021G/A—uncertain significance
rs249791516812:20,523,056A/C—uncertain significance
rs249791519112:20,523,064T/A—likely benign
rs249791528212:20,523,093C/G—uncertain significance
rs77379319512:20,523,094C/T—likely benign
rs14079448912:20,523,123G/A—uncertain significance
rs194344075912:20,523,138C/T—uncertain significance
rs194344119912:20,523,149A/G—uncertain significance
rs212048443612:20,523,164A/G—uncertain significance
rs37370336112:20,523,198C/T—likely benign
rs1104519312:20,523,343G/T—benign
rs1104519412:20,523,344T/G—benign
rs14487440912:20,523,345T/G—benign
rs134858212:20,531,756T/Cintron variant—
rs1104522612:20,565,464T/Cintron variant—
rs1077065412:20,573,163A/T——
rs1104523612:20,578,939C/Tintron variant—
rs1104523712:20,579,083A/T——
rs1104523912:20,579,694G/C——
rs6672065212:20,582,640A/Tintron variant—
rs1084153012:20,599,112A/Gdownstream gene variant—
rs796287112:20,600,537C/Tdownstream gene variant—
rs18893134812:20,619,705G/Aintron variant—
rs5618685212:20,635,168T/Gintron variant—
rs7694664912:20,681,638G/Cintron variant—
rs77078670312:20,709,606T/C—uncertain significance
rs476297212:20,709,733G/A—benign
rs7693111412:20,711,134T/Cintron variant—
rs796622612:20,724,791G/C—benign
rs796645912:20,724,988G/A—benign
rs6141545812:20,726,031T/Cintron variant—
rs1084156912:20,734,839A/Gintron variant—
rs1161120812:20,758,613G/Aintron variant—
rs37492535812:20,766,390G/A—uncertain significance
rs77924272912:20,766,409C/T—likely benign
rs15025303912:20,766,410G/A—likely benign
rs194391993712:20,766,445C/G—likely benign
rs37762327712:20,766,498G/A—uncertain significance

Showing 100 of 221 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.