GRK1

G protein-coupled receptor kinase 1

Summary

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

Known Variants56 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7577930413:114,301,338G/Adownstream gene variant—
rs14450104213:114,321,467G/A—benign
rs37071304713:114,321,756C/T—likely pathogenic
rs124304951613:114,321,793G/A—uncertain significance
rs250260036813:114,321,843G/C—uncertain significance
rs19963210913:114,321,852C/T—uncertain significance
rs7357934213:114,321,863C/T—likely benign
rs123580238813:114,321,879A/C—uncertain significance
rs57201851913:114,321,935G/A—likely benign
rs204982772513:114,321,965C/T—likely benign
rs204982797113:114,321,990A/C—uncertain significance
rs78150648613:114,321,998C/G—uncertain significance
rs147552934213:114,322,063T/C—uncertain significance
rs37016067513:114,322,069G/A—uncertain significance
rs37765496913:114,322,096C/T—likely benign
rs75300341013:114,322,113C/A—uncertain significance
rs37526174913:114,322,131G/T—uncertain significance
rs26760376413:114,322,132G/C—uncertain significance
rs250260123513:114,322,164G/T—uncertain significance
rs37015412313:114,322,165C/T—uncertain significance
rs134001708613:114,322,168A/T—uncertain significance
rs204982961213:114,322,171T/C—likely pathogenic
rs95433177913:114,322,273T/A—uncertain significance
rs204983088113:114,322,296G/C—likely pathogenic
rs76113831713:114,322,315C/A—likely pathogenic
rs36833842713:114,322,322C/G—uncertain significance
rs77758535813:114,322,356A/C—uncertain significance
rs5771904713:114,323,889C/T—benign
rs979623413:114,323,997C/T—benign
rs56601982613:114,324,048T/C—uncertain significance
rs77595500113:114,324,069C/T—uncertain significance
rs76779806513:114,324,108T/C—uncertain significance
rs77805924613:114,324,116G/A—uncertain significance
rs20005382813:114,325,878A/G—likely benign
rs75347011213:114,325,909T/C—likely pathogenic
rs14352540713:114,426,034A/G—benign
rs14148841913:114,426,111G/A—likely benign
rs54585103413:114,433,562G/A——
rs144132701813:114,434,206G/A—likely pathogenic
rs14519502013:114,434,220C/G—likely benign
rs204993525413:114,434,251G/C—likely pathogenic
rs99506517713:114,434,260G/T—likely pathogenic
rs77709400013:114,434,261T/Amissense variantpathogenic
rs55214293713:114,434,283G/A—likely benign
rs57062142913:114,434,294C/Amissense variantpathogenic
rs13787728913:114,434,299C/T—pathogenic
rs250262685413:114,434,323G/A—likely benign
rs14669661413:114,435,807A/G—benign
rs20207698613:114,435,882G/A—uncertain significance
rs76507039913:114,435,974C/T—likely pathogenic
rs75061905713:114,435,975G/A—likely benign
rs159458043113:114,436,046C/T—likely pathogenic
rs407666213:114,437,997C/G—benign
rs15095824513:114,438,051G/A—likely benign
rs18450504513:114,438,219G/A—likely benign
rs77919149713:114,438,338T/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.