GNB3

G protein subunit beta 3

Summary

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

Known Variants256 total

rsidPosition (GRCh37)AllelesClassClinVar
rs112964912:6,948,468T/Gmissense variant—
rs544112:6,949,026A/Gregulatory region variant—
rs207105712:6,950,052G/Adownstream gene variant—
rs2839578112:6,950,403A/G—benign
rs194356884312:6,950,453T/C—uncertain significance
rs194356888512:6,950,455G/A—uncertain significance
rs78210324012:6,950,456G/A—uncertain significance
rs131775199012:6,950,459A/G—uncertain significance
rs92537182412:6,950,462T/C—uncertain significance
rs78275089912:6,950,473C/T—uncertain significance
rs19953166012:6,950,474G/A—uncertain significance
rs75421093912:6,950,479G/A—uncertain significance
rs78255007612:6,950,483C/T—uncertain significance
rs56609881412:6,950,484G/A—likely benign
rs254234311912:6,950,487G/C—uncertain significance
rs213797650112:6,950,490G/A—likely benign
rs78252064012:6,950,492T/G—uncertain significance
rs254234317712:6,950,496G/A—likely benign
rs20149122612:6,950,507C/T—uncertain significance
rs254234324212:6,950,514T/C—uncertain significance
rs89271516112:6,950,522C/T—likely benign
rs155512333212:6,950,527C/T—likely benign
rs36771103212:6,950,731A/G—likely benign
rs1330640812:6,950,741T/C—likely benign
rs100231679212:6,950,765T/C—uncertain significance
rs122147914812:6,950,772A/G—uncertain significance
rs14508579312:6,950,773C/T—benign
rs78260891412:6,950,774G/A—uncertain significance
rs155512339112:6,950,781T/A—uncertain significance
rs78246347612:6,950,790T/G—uncertain significance
rs78258380612:6,950,793G/T—uncertain significance
rs78276212812:6,950,799C/T—likely benign
rs78216026112:6,950,803C/T—likely benign
rs37112323012:6,950,804C/G—likely benign
rs78187448712:6,950,807C/T—likely benign
rs78211287112:6,950,808G/A—likely benign
rs78253280212:6,952,118G/A—likely benign
rs254234774812:6,952,119C/T—likely benign
rs155512368412:6,952,123T/C—likely benign
rs213798127312:6,952,125T/C—likely benign
rs78231636912:6,952,156T/C—uncertain significance
rs194360097312:6,952,159G/A—uncertain significance
rs78204361912:6,952,161C/G—uncertain significance
rs78215485212:6,952,162G/A—uncertain significance
rs213798145812:6,952,166C/T—likely benign
rs148587104812:6,952,173C/T—uncertain significance
rs78239828312:6,952,174G/A—uncertain significance
rs11640059612:6,952,177C/T—uncertain significance
rs14909534712:6,952,178G/A—benign
rs78180501812:6,952,179C/T—uncertain significance
rs14474296212:6,952,182C/T—uncertain significance
rs78239350212:6,952,183G/A—uncertain significance
rs37683213912:6,952,184G/A—likely benign
rs78250183612:6,952,186C/T—uncertain significance
rs138291077712:6,952,187G/A—likely benign
rs254234808612:6,952,189T/A—uncertain significance
rs254234836312:6,952,206A/G—uncertain significance
rs14670215812:6,952,214C/T—likely benign
rs78255419512:6,952,215G/A—uncertain significance
rs155512372512:6,952,219T/C—uncertain significance
rs133717153212:6,952,223C/G—uncertain significance
rs146904759912:6,952,227G/A—uncertain significance
rs137586498212:6,952,229C/T—likely benign
rs173352336612:6,952,230A/G—uncertain significance
rs14026359912:6,952,237C/Tmissense variantpathogenic
rs78265574812:6,952,246G/A—uncertain significance
rs141814107012:6,952,249T/G—likely benign
rs78236369712:6,952,250G/T—likely benign
rs37377724812:6,952,251G/T—likely benign
rs37739281912:6,952,252G/C—likely benign
rs78178410412:6,952,260C/T—likely benign
rs78275990512:6,952,319T/A—likely benign
rs78184050412:6,952,320G/A—likely benign
rs78271453412:6,952,345G/C—uncertain significance
rs78265919012:6,952,355C/G—uncertain significance
rs194360849512:6,952,356G/A—likely benign
rs223475612:6,952,360G/T—uncertain significance
rs19032569612:6,952,374C/T—likely benign
rs4561603212:6,952,375G/A—uncertain significance
rs78239505312:6,952,383C/T—likely benign
rs136563181812:6,952,386C/G—uncertain significance
rs2839577412:6,952,389C/G—uncertain significance
rs20146732012:6,952,397A/C—uncertain significance
rs136514267212:6,952,398C/T—likely benign
rs37143329212:6,952,409C/T—likely benign
rs78193514512:6,952,413G/C—likely benign
rs194361029512:6,952,419C/A—likely benign
rs155512380912:6,952,521C/T—likely benign
rs254234969412:6,952,529G/A—likely benign
rs78192594512:6,952,532C/T—likely benign
rs194361304012:6,952,541A/G—likely benign
rs194361307912:6,952,542C/T—likely benign
rs78225153412:6,952,544G/A—likely benign
rs78237004312:6,952,545C/T—uncertain significance
rs155512381512:6,952,546G/A—uncertain significance
rs254234989212:6,952,560A/G—uncertain significance
rs20004851212:6,952,565C/T—likely benign
rs213798322512:6,952,574T/C—likely benign
rs14799205412:6,952,575G/T—uncertain significance
rs20196349012:6,952,602G/C—uncertain significance

Showing 100 of 256 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.