GRM1

glutamate metabotropic receptor 1

Summary

This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

Known Variants314 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6920529	6:146,350,148	A/G	—	benign
rs2073287	6:146,350,264	T/C	—	benign
rs1324682256	6:146,350,659	C/G	—	likely benign
rs1339024978	6:146,350,679	T/C	—	uncertain significance
rs377264022	6:146,350,685	C/G	—	uncertain significance
rs199734282	6:146,350,686	G/C	—	likely benign
rs774851565	6:146,350,694	T/G	—	uncertain significance
rs1477880063	6:146,350,703	C/T	—	uncertain significance
rs2482534753	6:146,350,719	C/A	—	uncertain significance
rs1790637977	6:146,350,726	A/C	—	likely benign
rs148650922	6:146,350,727	G/A	—	uncertain significance
rs751336735	6:146,350,734	G/C	—	likely benign
rs745816913	6:146,350,752	G/C	—	likely benign
rs374907798	6:146,350,766	T/C	—	uncertain significance
rs1790639703	6:146,350,780	G/A	—	uncertain significance
rs377586730	6:146,350,797	A/G	—	likely benign
rs370752444	6:146,350,800	C/T	—	likely benign
rs763709415	6:146,350,845	G/A	—	likely benign
rs112221974	6:146,350,863	C/T	—	likely benign
rs2128834249	6:146,350,865	G/C	—	uncertain significance
rs2482536335	6:146,350,877	G/A	—	uncertain significance
rs145861054	6:146,350,917	G/A	—	benign
rs762000484	6:146,350,925	C/T	—	uncertain significance
rs1250692744	6:146,350,938	C/T	—	likely benign
rs202052621	6:146,350,974	C/T	—	benign
rs1391056973	6:146,351,027	A/G	—	uncertain significance
rs779134688	6:146,351,029	T/A	—	uncertain significance
rs748302318	6:146,351,034	G/A	—	likely benign
rs905964379	6:146,351,044	C/A	—	likely benign
rs546120018	6:146,351,056	G/T	—	uncertain significance
rs151118347	6:146,351,061	G/A	—	benign
rs768089696	6:146,351,062	A/G	—	uncertain significance
rs766288983	6:146,351,081	A/T	—	uncertain significance
rs138794480	6:146,351,097	C/G	—	likely benign
rs201784351	6:146,351,098	C/G	—	uncertain significance
rs199749018	6:146,351,099	C/T	—	uncertain significance
rs2482538754	6:146,351,110	A/G	—	uncertain significance
rs545400382	6:146,351,118	C/T	—	likely benign
rs1217113028	6:146,351,121	T/C	—	likely benign
rs1474428521	6:146,351,124	G/C	—	likely benign
rs772680908	6:146,351,133	C/T	—	likely benign
rs149386064	6:146,351,202	C/T	—	likely benign
rs145923257	6:146,351,208	T/C	—	likely benign
rs112670841	6:146,351,277	C/T	—	benign
rs759368561	6:146,351,322	T/C	—	likely benign
rs2482540437	6:146,351,327	C/T	—	uncertain significance
rs148483275	6:146,351,334	C/A	—	likely benign
rs1790656062	6:146,351,364	T/C	—	likely benign
rs113264005	6:146,351,368	T/C	—	benign
rs17075683	6:146,437,693	A/G	intron variant	—
rs59686912	6:146,460,958	C/T	intron variant	—
rs115698440	6:146,480,452	G/A	—	likely benign
rs768616151	6:146,480,505	T/C	—	uncertain significance
rs2483045618	6:146,480,533	G/A	—	likely benign
rs183502505	6:146,480,557	T/G	—	benign
rs1554274719	6:146,480,568	A/G	—	pathogenic
rs201053682	6:146,480,596	C/T	—	likely benign
rs766567009	6:146,480,606	C/T	—	uncertain significance
rs192397712	6:146,480,610	A/C	—	uncertain significance
rs1022097029	6:146,480,612	C/A	—	uncertain significance
rs1448466753	6:146,480,634	C/T	—	uncertain significance
rs7760248	6:146,480,637	G/A	—	conflicting classifications of pathogenicity
rs1383948929	6:146,480,668	A/C	—	conflicting classifications of pathogenicity
rs774214806	6:146,480,672	C/T	—	pathogenic
rs2483046637	6:146,480,678	C/T	—	uncertain significance
rs112915383	6:146,480,705	G/A	—	likely benign
rs753190249	6:146,480,708	G/T	—	uncertain significance
rs143238116	6:146,480,713	C/T	—	likely benign
rs764759109	6:146,480,714	G/A	—	uncertain significance
rs929098066	6:146,480,769	T/A	—	benign
rs565077203	6:146,480,771	T/A	—	benign
rs572279053	6:146,480,773	T/A	—	benign
rs578242342	6:146,480,775	T/A	—	benign
rs7742685	6:146,481,024	T/C	—	benign
rs1398627575	6:146,481,052	T/A	—	benign
rs9497486	6:146,535,715	G/T	intron variant	—
rs55785601	6:146,560,056	G/A	intron variant	—
rs753452715	6:146,625,727	C/T	—	likely benign
rs1201743151	6:146,625,728	C/A	—	likely benign
rs754573273	6:146,625,732	C/G	—	likely benign
rs752453887	6:146,625,739	T/A	—	likely benign
rs758215901	6:146,625,741	T/A	—	uncertain significance
rs551572574	6:146,625,813	G/A	—	likely benign
rs146698700	6:146,625,822	G/T	—	likely benign
rs112817798	6:146,625,869	G/A	—	uncertain significance
rs768125686	6:146,625,884	C/T	—	uncertain significance
rs144403036	6:146,625,888	G/A	—	likely benign
rs563754946	6:146,625,924	C/T	—	benign
rs1783517255	6:146,625,933	C/T	—	uncertain significance
rs1173574943	6:146,625,952	G/C	—	uncertain significance
rs769064791	6:146,625,961	A/C	—	uncertain significance
rs1562595358	6:146,625,974	T/A	—	uncertain significance
rs373672230	6:146,625,990	A/G	—	likely benign
rs142233320	6:146,625,992	G/A	—	benign
rs556515880	6:146,625,997	C/T	—	likely benign
rs362962	6:146,633,818	T/C	regulatory region variant	—
rs1018703074	6:146,673,400	G/A	—	uncertain significance
rs928564910	6:146,673,486	T/C	—	likely benign
rs2483758813	6:146,673,487	G/T	—	uncertain significance
rs755116876	6:146,673,505	G/A	—	uncertain significance

Showing 100 of 314 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.