GNA11

G protein subunit alpha 11

Summary

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

Known Variants283 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19042431719:3,094,215C/G—benign
rs86677978519:3,094,527G/A—benign
rs75830255819:3,094,655T/C—likely benign
rs77998911319:3,094,658G/T—likely benign
rs138710546719:3,094,665A/G—uncertain significance
rs14107817219:3,094,672C/T—uncertain significance
rs214530028519:3,094,676T/C—likely benign
rs191331806519:3,094,689G/A—uncertain significance
rs251207820019:3,094,698G/T—uncertain significance
rs74843909619:3,094,703C/T—likely benign
rs214530034219:3,094,712C/T—likely benign
rs37550507719:3,094,718C/G—likely benign
rs191331857219:3,094,720A/T—uncertain significance
rs251207823219:3,094,725G/A—uncertain significance
rs214530036019:3,094,737C/T—uncertain significance
rs77003560519:3,094,742G/A—likely benign
rs20023479019:3,094,744A/G—uncertain significance
rs121202267319:3,094,763C/G—likely benign
rs125716633919:3,094,766G/A—likely benign
rs36843812319:3,094,775G/A—likely benign
rs251207830919:3,094,779C/T—likely benign
rs129979749019:3,094,805C/T—likely benign
rs125017323219:3,094,824C/T—likely benign
rs1245981319:3,094,923T/C—benign
rs725542519:3,110,098A/G—benign
rs93365159519:3,110,106G/T—likely benign
rs137389466919:3,110,107G/T—likely benign
rs144231784619:3,110,108C/T—likely benign
rs77900805619:3,110,127T/C—likely benign
rs74591247319:3,110,131G/A—likely benign
rs214531540019:3,110,135C/T—likely benign
rs56394490819:3,110,138G/A—likely benign
rs76912906719:3,110,141C/T—likely benign
rs191373553519:3,110,142C/G—likely benign
rs77684364819:3,110,148C/T—conflicting classifications of pathogenicity
rs6173111719:3,110,151G/A—likely benign
rs191373598819:3,110,155G/A—uncertain significance
rs191373606119:3,110,159G/A—uncertain significance
rs75906710719:3,110,160C/T—likely benign
rs37722453919:3,110,161G/A—uncertain significance
rs133555836319:3,110,171C/T—likely pathogenic
rs14910819019:3,110,172G/A—likely benign
rs191373661719:3,110,185A/T—uncertain significance
rs251208914819:3,110,187G/A—uncertain significance
rs58777702119:3,110,188C/Tmissense variantpathogenic
rs58777770719:3,110,189G/Tmissense variantpathogenic
rs6173111619:3,110,199C/T—likely benign
rs75566346119:3,110,202C/T—likely benign
rs14752822919:3,110,203G/A—likely benign
rs57688708419:3,110,205C/T—likely benign
rs191373772619:3,110,213C/T—uncertain significance
rs36969996019:3,110,214G/A—likely benign
rs14030131719:3,110,227C/T—uncertain significance
rs167152285719:3,110,240A/G—uncertain significance
rs77072921419:3,110,244C/T—likely benign
rs77709916619:3,110,245G/A—uncertain significance
rs14503322019:3,110,250C/T—likely benign
rs140272316319:3,110,252A/G—uncertain significance
rs251208925319:3,110,258T/C—uncertain significance
rs14020405719:3,110,265C/T—likely benign
rs77484248619:3,110,274G/A—likely benign
rs251208928819:3,110,280G/T—uncertain significance
rs75369383819:3,110,284C/T—uncertain significance
rs75699153419:3,110,297C/T—uncertain significance
rs191374037119:3,110,298G/A—likely benign
rs74925685419:3,110,301C/G—likely benign
rs75070665519:3,110,310C/T—likely benign
rs251208935419:3,110,315A/G—uncertain significance
rs75860354919:3,110,319C/T—likely benign
rs54630667819:3,110,339C/T—likely benign
rs14398726019:3,110,340G/A—likely benign
rs37055807419:3,110,341C/T—likely benign
rs77369858319:3,110,342G/A—likely benign
rs4127684419:3,110,344G/A—likely benign
rs37325005019:3,110,346G/A—likely benign
rs1108500019:3,110,349T/G—likely benign
rs77509979819:3,110,350G/A—likely benign
rs4127684619:3,110,361T/C—benign
rs14730921619:3,110,422G/A—likely benign
rs725736819:3,110,487A/G—benign
rs17261319:3,110,515A/G—benign
rs21761119:3,110,585A/G—benign
rs5949693219:3,110,607G/C—benign
rs5570272719:3,113,156G/A—benign
rs7662810419:3,113,162G/A—benign
rs30806419:3,113,176T/C—benign
rs13853239019:3,113,241G/A—likely benign
rs18670723219:3,113,279A/C—likely benign
rs168281119:3,113,305G/C—benign
rs77951885219:3,113,309C/G—likely benign
rs125213742219:3,113,312C/T—likely benign
rs76811386419:3,113,317C/T—likely benign
rs36887458019:3,113,318G/A—likely benign
rs77302089019:3,113,323C/T—likely benign
rs36821675819:3,113,324G/C—likely benign
rs75166516619:3,113,332A/G—uncertain significance
rs214531843319:3,113,337C/G—uncertain significance
rs75279540319:3,113,340C/T—likely benign
rs119726262919:3,113,351G/C—uncertain significance
rs129806816019:3,113,360G/A—likely benign

Showing 100 of 283 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.