PRKG1

protein kinase cGMP-dependent 1

Summary

Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

Known Variants648 total

rsidPosition (GRCh37)AllelesClassClinVar
rs224890810:52,750,665C/T—benign
rs18612740210:52,750,794A/G—likely benign
rs11141710710:52,750,987A/G—likely benign
rs11423423510:52,750,995A/C—likely benign
rs55986261510:52,751,064C/A—likely benign
rs20084410510:52,751,151G/C—likely benign
rs20201791310:52,751,177G/A—likely benign
rs135306843910:52,751,229G/A—uncertain significance
rs75157225210:52,751,269A/G—uncertain significance
rs141678469010:52,751,279C/G—likely benign
rs249301175210:52,751,282A/C—likely benign
rs56826657910:52,751,347C/G—uncertain significance
rs155482839210:52,751,384G/C—uncertain significance
rs37054279210:52,751,396G/A—likely benign
rs1222133110:52,751,439C/T—likely benign
rs55565439510:52,751,456G/C—likely benign
rs18326417110:52,751,538C/A—likely benign
rs1082205510:52,752,880T/C——
rs7644281510:52,780,435G/Cintron variant—
rs647987410:52,789,355T/G——
rs19085110110:52,789,714C/Tintron variant—
rs266654310:52,818,258C/Tdownstream gene variant—
rs1074012710:52,825,432T/Aintron variant—
rs18955294110:52,826,422T/Cintron variant—
rs1226465710:52,833,902C/T—benign
rs54114142410:52,834,076C/G—likely benign
rs4127408010:52,834,320C/T—benign
rs19979601810:52,834,321A/G—likely benign
rs164411744010:52,834,346G/A—uncertain significance
rs184389828510:52,834,355G/A—uncertain significance
rs78075853910:52,834,360T/C—likely benign
rs75209272310:52,834,363C/A—likely benign
rs14878081210:52,834,365G/T—likely benign
rs77747222410:52,834,377C/T—likely benign
rs76886788210:52,834,380G/A—likely benign
rs249315179010:52,834,381C/T—uncertain significance
rs249315179510:52,834,383C/T—likely benign
rs136083639810:52,834,386G/A—likely benign
rs249315185310:52,834,388A/G—uncertain significance
rs87885490110:52,834,389G/A—likely benign
rs213280398810:52,834,401G/A—likely benign
rs145960063210:52,834,402C/T—likely benign
rs249315189410:52,834,408C/T—uncertain significance
rs74638759610:52,834,411C/G—uncertain significance
rs14380550910:52,834,413G/A—likely benign
rs127721560610:52,834,419T/G—likely benign
rs158913369110:52,834,422C/G—likely benign
rs77604874610:52,834,425C/A—conflicting classifications of pathogenicity
rs184390054210:52,834,429G/C—uncertain significance
rs249315198110:52,834,430A/T—uncertain significance
rs249315199110:52,834,435G/C—uncertain significance
rs77704041110:52,834,444T/C—likely benign
rs249315202610:52,834,447G/C—uncertain significance
rs158913371210:52,834,449T/C—likely benign
rs249315205110:52,834,461A/G—likely benign
rs249315205510:52,834,462C/T—likely benign
rs37023841310:52,834,463T/A—uncertain significance
rs91315125410:52,834,464G/C—likely benign
rs76622638910:52,834,467C/T—likely benign
rs249315209010:52,834,469A/T—uncertain significance
rs14668187510:52,834,473G/A—likely benign
rs249315211310:52,834,477C/G—uncertain significance
rs184390212710:52,834,479G/A—likely benign
rs13922702110:52,834,482C/T—likely benign
rs249315213410:52,834,483G/A—uncertain significance
rs118925322910:52,834,485G/A—likely benign
rs184390245510:52,834,497C/T—likely benign
rs138223298510:52,834,499G/A—uncertain significance
rs140060177510:52,834,503G/C—likely benign
rs75566465410:52,834,506G/A—likely benign
rs132628521510:52,834,510C/G—uncertain significance
rs213280443310:52,834,512A/G—likely benign
rs76198659610:52,834,515A/T—likely benign
rs124406140610:52,834,518C/T—likely benign
rs75888828710:52,834,520C/T—uncertain significance
rs127856806810:52,834,521C/G—likely benign
rs75686669210:52,834,530G/A—likely benign
rs213280454010:52,834,539G/C—uncertain significance
rs184390392710:52,834,541G/C—uncertain significance
rs77934550110:52,834,544C/A—uncertain significance
rs131684066310:52,834,545G/A—likely benign
rs53001390510:52,834,547G/T—likely benign
rs74749479810:52,834,550C/T—uncertain significance
rs156458962210:52,834,552T/A—uncertain significance
rs134304234410:52,834,556A/G—uncertain significance
rs184390461510:52,834,557G/A—likely benign
rs213280464010:52,834,561G/A—uncertain significance
rs76887886310:52,834,563G/A—likely benign
rs77681114710:52,834,564C/G—uncertain significance
rs213280466310:52,834,566G/A—likely benign
rs91966755710:52,834,576C/T—uncertain significance
rs131169571010:52,834,577G/C—uncertain significance
rs213280469910:52,834,580A/G—uncertain significance
rs213280470410:52,834,582G/A—uncertain significance
rs77347251910:52,834,587C/T—likely benign
rs14397188910:52,834,590C/T—likely benign
rs76731561810:52,834,593C/G—likely benign
rs132562846210:52,834,602C/T—likely benign
rs249315272310:52,834,604C/T—uncertain significance
rs249315273410:52,834,608C/T—likely benign

Showing 100 of 648 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.