RGS6

regulator of G protein signaling 6

Summary

This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]

Known Variants129 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2190873	14:72,424,905	T/C	intron variant	—
rs2067854	14:72,425,819	G/A	intron variant	—
rs140930318	14:72,431,210	T/C	—	likely benign
rs77884502	14:72,431,455	C/T	—	benign
rs28678612	14:72,431,464	A/G	—	benign
rs200193982	14:72,431,555	C/T	—	uncertain significance
rs779463511	14:72,431,581	G/A	—	uncertain significance
rs61755651	14:72,431,599	T/C	—	benign
rs4902960	14:72,432,149	G/A	intron variant	—
rs12897542	14:72,449,591	A/G	intron variant	—
rs11623492	14:72,462,557	A/G	upstream gene variant	—
rs4899412	14:72,464,262	T/C	intron variant	—
rs2052015	14:72,487,053	C/G	—	—
rs699363	14:72,692,493	G/T	—	—
rs847354	14:72,781,929	T/C	intron variant	—
rs2681735	14:72,812,525	A/G	intron variant	—
rs2681744	14:72,815,284	C/A	intron variant	—
rs145614516	14:72,818,615	G/T	—	likely benign
rs61749504	14:72,818,811	C/T	—	likely benign
rs142585378	14:72,818,812	A/C	—	uncertain significance
rs768765904	14:72,818,836	A/G	—	uncertain significance
rs1273131466	14:72,818,852	C/T	—	uncertain significance
rs199669187	14:72,818,865	C/G	—	likely benign
rs767454072	14:72,818,890	A/G	—	uncertain significance
rs2544491520	14:72,818,891	G/A	—	uncertain significance
rs112696041	14:72,818,909	C/T	—	likely benign
rs139421333	14:72,818,968	C/T	—	likely benign
rs2239219	14:72,852,820	A/G	intron variant	—
rs7159300	14:72,883,874	G/A	regulatory region variant	—
rs73294955	14:72,885,562	C/A	—	—
rs528875370	14:72,921,229	G/A	—	likely benign
rs2056963252	14:72,921,275	T/C	—	uncertain significance
rs999383083	14:72,921,292	T/C	—	uncertain significance
rs2302144	14:72,921,417	C/G	—	benign
rs140830591	14:72,924,689	A/G	—	likely benign
rs17116023	14:72,924,715	C/T	—	likely benign
rs17116029	14:72,924,765	T/C	—	likely benign
rs1597804940	14:72,924,992	C/T	—	likely benign
rs897303061	14:72,924,993	T/C	—	likely benign
rs367643813	14:72,925,008	G/T	—	uncertain significance
rs2238186	14:72,925,171	G/C	—	benign
rs2238184	14:72,926,086	T/A	—	benign
rs113255234	14:72,926,141	C/G	—	benign
rs2238183	14:72,926,165	G/A	—	benign
rs115874212	14:72,926,244	G/A	—	likely benign
rs140941925	14:72,926,499	G/C	—	likely benign
rs192882130	14:72,932,302	A/T	—	benign
rs55854917	14:72,932,306	A/G	—	benign
rs200980600	14:72,932,310	T/A	—	benign
rs143952096	14:72,932,316	G/A	—	benign
rs78942360	14:72,932,389	G/T	—	benign
rs111681213	14:72,932,515	G/C	—	likely benign
rs2095895027	14:72,932,516	G/A	—	uncertain significance
rs75036480	14:72,932,563	A/G	—	benign
rs28428926	14:72,932,809	A/G	—	benign
rs139772129	14:72,936,461	T/G	—	likely benign
rs914471039	14:72,936,710	A/C	—	likely benign
rs776819190	14:72,936,787	G/C	—	uncertain significance
rs28708927	14:72,936,808	G/A	—	likely benign
rs142584627	14:72,936,938	C/T	—	likely benign
rs8012037	14:72,936,954	T/C	—	benign
rs10131300	14:72,939,495	C/A	intron variant	benign
rs769104764	14:72,939,624	G/C	—	uncertain significance
rs10131497	14:72,939,735	C/T	—	benign
rs188744873	14:72,939,922	C/T	—	likely benign
rs8008067	14:72,941,207	G/A	—	benign
rs143420037	14:72,941,379	G/A	—	uncertain significance
rs562667780	14:72,941,411	C/T	—	uncertain significance
rs2074953	14:72,943,176	C/T	—	benign
rs141922821	14:72,943,453	G/A	—	uncertain significance
rs146313675	14:72,943,462	G/A	—	uncertain significance
rs41304359	14:72,943,527	A/G	—	likely benign
rs115861478	14:72,943,751	C/T	—	likely benign
rs12050430	14:72,943,752	C/T	—	benign
rs115506563	14:72,944,693	C/T	—	likely benign
rs2239277	14:72,944,943	G/T	—	benign
rs2302143	14:72,945,012	C/T	—	benign
rs745894804	14:72,945,020	G/A	—	uncertain significance
rs114156988	14:72,945,048	C/T	—	benign
rs17116464	14:72,961,598	T/C	—	benign
rs746670932	14:72,961,875	G/A	—	likely benign
rs1191701209	14:72,961,890	A/C	—	uncertain significance
rs745593278	14:72,961,937	G/A	—	uncertain significance
rs139840364	14:72,961,938	C/T	—	likely benign
rs201093075	14:72,961,939	G/A	—	uncertain significance
rs115796263	14:72,962,155	G/A	—	likely benign
rs2286072	14:72,976,585	T/C	—	benign
rs17180712	14:72,976,615	T/C	—	benign
rs77387808	14:72,976,630	G/A	—	benign
rs28533672	14:72,976,799	G/A	—	likely benign
rs115013095	14:72,976,852	C/T	—	benign
rs1222947105	14:72,976,884	G/A	—	uncertain significance
rs144184633	14:72,976,936	G/A	—	uncertain significance
rs771215630	14:72,976,951	G/A	—	uncertain significance
rs551152070	14:72,977,057	C/G	—	benign
rs4617784	14:72,977,081	A/C	—	benign
rs4346151	14:72,977,084	A/G	—	benign
rs5008274	14:72,977,154	C/T	—	benign
rs72726167	14:72,977,189	G/A	—	benign
rs12147474	14:72,977,199	A/G	—	benign

Showing 100 of 129 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.