RGS17

regulator of G protein signaling 17

Summary

This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]

Known Variants31 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5567798336:153,332,804T/Cuncertain significance
rs9456662346:153,345,402T/Guncertain significance
rs1512151616:153,345,582T/Cuncertain significance
rs1379369236:153,345,624G/Auncertain significance
rs7615485426:153,347,647T/Cuncertain significance
rs15623146216:153,347,652C/Guncertain significance
rs22952306:153,365,100A/Tsynonymous variant
rs9151618246:153,365,101G/Auncertain significance
rs14899708056:153,365,117G/Cuncertain significance
rs13380716:153,365,834G/Cupstream gene variant
rs13380706:153,365,841G/Tupstream gene variant
rs93836436:153,374,482A/T
rs77504976:153,376,417C/Tdownstream gene variant
rs93712776:153,377,217T/Cdownstream gene variant
rs93836446:153,377,227A/T
rs69342386:153,378,061G/Adownstream gene variant
rs69355936:153,378,090C/G
rs69039816:153,379,664C/G
rs69134066:153,386,942G/Aintron variant
rs6553706:153,413,460G/Cregulatory region variant
rs93716726:153,422,140C/A
rs93836496:153,428,102A/C
rs637398616:153,430,868A/Cintron variant
rs12819626:153,431,376G/Cintron variant
rs69324736:153,438,573A/Tintron variant
rs77580026:153,440,770G/C
rs19334886:153,441,079A/Gintron variant
rs93716766:153,445,965C/Aintron variant
rs69328476:153,448,307G/Aintron variant
rs1122897396:153,451,065C/Tintron variant
rs5723352596:153,451,172C/T

Gene information from NCBI Gene. Variant classifications from ClinVar.