ITPR3

inositol 1,4,5-trisphosphate receptor type 3

Summary

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

Known Variants387 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3748079	6:33,588,147	C/T	regulatory region variant	—
rs35329444	6:33,588,985	C/A	—	benign
rs6910386	6:33,589,032	G/C	—	benign
rs533261572	6:33,589,325	T/C	—	—
rs55774724	6:33,589,332	T/C	—	benign
rs773041390	6:33,589,391	G/A	—	uncertain significance
rs201726270	6:33,589,404	C/T	—	uncertain significance
rs12208234	6:33,590,009	A/T	regulatory region variant	—
rs4713641	6:33,590,291	C/T	regulatory region variant	—
rs74770208	6:33,592,294	G/C	intron variant	—
rs1536043	6:33,592,881	A/G	—	—
rs62407630	6:33,597,592	A/G	intron variant	—
rs9469531	6:33,599,495	A/G	intron variant	—
rs12207576	6:33,605,619	A/T	intron variant	—
rs41271247	6:33,608,216	T/G	—	benign
rs1472444463	6:33,608,275	G/A	—	uncertain significance
rs146942977	6:33,608,301	G/C	—	uncertain significance
rs141783150	6:33,608,330	T/C	—	likely benign
rs4713647	6:33,608,379	T/C	—	benign
rs4713650	6:33,616,828	C/A	—	—
rs9394159	6:33,618,162	A/G	—	—
rs10947423	6:33,618,824	C/T	intron variant	—
rs569075715	6:33,620,463	G/A	—	—
rs78064999	6:33,623,509	T/C	—	benign
rs200123519	6:33,623,548	C/G	—	uncertain significance
rs2532982303	6:33,623,557	G/A	—	uncertain significance
rs142283170	6:33,623,580	G/A	—	likely benign
rs746247025	6:33,623,584	C/A	—	uncertain significance
rs141238136	6:33,623,634	C/T	—	likely benign
rs9469541	6:33,623,822	G/A	—	benign
rs999943	6:33,624,733	A/G	regulatory region variant	—
rs2274200	6:33,625,696	T/C	—	benign
rs1422839378	6:33,625,714	G/A	—	likely benign
rs142845743	6:33,625,735	A/G	—	likely benign
rs1764354921	6:33,625,748	A/G	—	uncertain significance
rs370503445	6:33,626,511	A/G	—	uncertain significance
rs2296344	6:33,626,515	C/T	—	likely benign
rs1237600471	6:33,626,522	C/T	—	conflicting classifications of pathogenicity
rs116499996	6:33,626,605	C/T	—	likely benign
rs2296343	6:33,626,717	T/C	—	benign
rs375290619	6:33,626,803	C/T	—	likely benign
rs2532999434	6:33,626,832	T/G	—	uncertain significance
rs151088791	6:33,626,882	G/A	—	uncertain significance
rs75742993	6:33,626,905	G/T	—	benign
rs113742628	6:33,626,912	G/A	—	benign
rs2296342	6:33,627,077	G/A	—	benign
rs147723375	6:33,627,238	C/T	—	likely benign
rs760333138	6:33,627,297	C/G	—	uncertain significance
rs41271249	6:33,627,367	A/G	—	benign
rs2147658	6:33,630,129	A/G	—	benign
rs764696741	6:33,630,323	T/C	—	uncertain significance
rs779093566	6:33,630,360	A/G	—	uncertain significance
rs767392916	6:33,630,432	A/G	—	uncertain significance
rs2296340	6:33,630,472	A/G	—	benign
rs2296339	6:33,630,624	T/C	—	benign
rs2296338	6:33,630,816	G/A	—	benign
rs9366827	6:33,630,846	G/A	—	benign
rs3068491	6:33,631,163	T/C	—	benign
rs201052446	6:33,631,299	A/G	—	uncertain significance
rs1764531422	6:33,631,308	A/T	—	uncertain significance
rs368801277	6:33,631,310	C/T	—	uncertain significance
rs200701659	6:33,631,519	C/T	—	likely benign
rs369824854	6:33,631,536	C/T	—	uncertain significance
rs2229630	6:33,631,619	C/T	—	benign
rs2229646	6:33,631,630	T/G	—	benign
rs2127271545	6:33,631,638	A/C	—	uncertain significance
rs2229631	6:33,631,640	C/T	—	benign
rs2533025237	6:33,631,643	C/G	—	uncertain significance
rs1158503419	6:33,631,645	C/T	—	uncertain significance
rs73746705	6:33,631,667	C/T	—	likely benign
rs2296337	6:33,631,696	G/A	—	benign
rs2894348	6:33,631,732	G/C	—	benign
rs55994614	6:33,632,618	C/T	—	benign
rs765845561	6:33,632,727	A/G	—	uncertain significance
rs2274199	6:33,632,750	C/T	—	benign
rs763939191	6:33,632,835	C/T	—	likely benign
rs138821995	6:33,632,922	C/T	—	likely benign
rs780808015	6:33,632,961	C/T	—	likely benign
rs6901411	6:33,633,527	A/G	—	benign
rs764206591	6:33,633,716	G/A	—	uncertain significance
rs145044249	6:33,633,757	C/T	—	benign
rs9469543	6:33,633,758	G/A	—	benign
rs1570759	6:33,633,940	A/G	—	benign
rs564030769	6:33,634,085	T/A	—	—
rs1764630575	6:33,634,945	G/T	—	uncertain significance
rs768879198	6:33,634,963	C/T	—	uncertain significance
rs774345255	6:33,634,964	G/A	—	uncertain significance
rs375990753	6:33,635,074	C/T	—	benign
rs12662536	6:33,635,407	T/A	—	benign
rs78399616	6:33,635,565	A/C	—	benign
rs774115645	6:33,635,566	C/A	—	uncertain significance
rs376588706	6:33,635,695	G/A	—	uncertain significance
rs2533046082	6:33,635,698	G/A	—	pathogenic
rs568408618	6:33,635,731	C/T	—	uncertain significance
rs368890268	6:33,635,738	C/T	—	uncertain significance
rs139220041	6:33,635,749	C/T	—	benign
rs4713651	6:33,635,854	T/C	—	benign
rs9380372	6:33,636,232	T/C	—	benign
rs140399440	6:33,636,379	C/T	—	likely benign
rs2296336	6:33,636,660	C/G	regulatory region variant	benign

Showing 100 of 387 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.