RIGI

RNA sensor RIG-I

Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]

Known Variants498 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1260350530	9:32,457,120	T/C	—	uncertain significance
rs565422288	9:32,457,122	A/G	—	uncertain significance
rs77788008	9:32,457,151	A/G	—	benign
rs758863718	9:32,457,168	G/C	—	uncertain significance
rs377348789	9:32,457,170	C/A	—	uncertain significance
rs2489276730	9:32,457,171	C/T	—	likely benign
rs2118627657	9:32,457,175	C/T	—	uncertain significance
rs751820024	9:32,457,180	C/T	—	likely benign
rs10970987	9:32,457,189	C/T	—	benign
rs959690242	9:32,457,200	C/A	—	uncertain significance
rs376946287	9:32,457,204	T/G	—	likely benign
rs2118627961	9:32,457,212	C/T	—	uncertain significance
rs368765122	9:32,457,217	A/C	—	uncertain significance
rs372684517	9:32,457,229	T/C	—	uncertain significance
rs191688102	9:32,457,232	A/G	—	uncertain significance
rs760090671	9:32,457,239	T/A	—	likely benign
rs138425677	9:32,457,245	G/A	—	likely benign
rs1822949220	9:32,457,258	C/T	—	likely benign
rs1822949789	9:32,457,277	C/T	—	uncertain significance
rs2489277163	9:32,457,282	G/C	—	uncertain significance
rs1822950012	9:32,457,286	T/A	—	uncertain significance
rs1297989197	9:32,457,295	T/G	—	uncertain significance
rs751722546	9:32,457,301	C/T	—	uncertain significance
rs757554872	9:32,457,302	G/A	—	uncertain significance
rs756211210	9:32,457,311	A/G	—	uncertain significance
rs2489277291	9:32,457,312	T/C	—	uncertain significance
rs147393239	9:32,457,323	T/C	—	uncertain significance
rs747735182	9:32,457,334	C/T	—	uncertain significance
rs201726738	9:32,457,338	A/G	—	uncertain significance
rs1199769819	9:32,457,342	C/G	—	uncertain significance
rs2118628940	9:32,457,343	T/C	—	uncertain significance
rs1479193304	9:32,457,354	G/A	—	likely benign
rs2489277493	9:32,457,361	G/A	—	uncertain significance
rs776072278	9:32,457,366	A/G	—	likely benign
rs1304055569	9:32,457,371	C/A	—	uncertain significance
rs764349220	9:32,457,375	G/A	—	likely benign
rs2489277563	9:32,457,387	A/C	—	likely benign
rs1213930166	9:32,457,388	G/C	—	uncertain significance
rs2489277627	9:32,457,401	C/T	—	uncertain significance
rs567033543	9:32,457,404	T/C	—	uncertain significance
rs2489277641	9:32,457,408	A/G	—	likely benign
rs17289116	9:32,457,529	G/A	—	benign
rs2489281041	9:32,459,351	T/A	—	likely benign
rs753992096	9:32,459,363	G/C	—	uncertain significance
rs887116436	9:32,459,364	C/G	—	uncertain significance
rs1318646485	9:32,459,377	C/T	—	uncertain significance
rs755657492	9:32,459,383	C/T	—	uncertain significance
rs149989209	9:32,459,384	G/A	—	likely benign
rs538144932	9:32,459,392	T/C	—	uncertain significance
rs2489281179	9:32,459,394	T/A	—	uncertain significance
rs1211600400	9:32,459,407	C/T	—	uncertain significance
rs1286540189	9:32,459,412	C/T	—	uncertain significance
rs773947260	9:32,459,413	A/T	—	uncertain significance
rs1273454974	9:32,459,419	T/C	—	uncertain significance
rs1323545545	9:32,459,441	C/A	—	uncertain significance
rs2489281309	9:32,459,443	T/C	—	uncertain significance
rs2489281313	9:32,459,444	A/G	—	likely benign
rs1204922283	9:32,459,445	T/C	—	uncertain significance
rs774180294	9:32,459,448	G/A	—	uncertain significance
rs1184398427	9:32,459,454	G/A	—	uncertain significance
rs2489281367	9:32,459,461	G/A	—	uncertain significance
rs760856237	9:32,459,470	G/A	—	uncertain significance
rs1431561099	9:32,459,475	T/C	—	uncertain significance
rs1399946004	9:32,459,479	T/C	—	uncertain significance
rs771103623	9:32,459,482	T/G	—	uncertain significance
rs955518383	9:32,459,493	T/C	—	uncertain significance
rs986575916	9:32,459,500	G/A	—	uncertain significance
rs143722155	9:32,459,505	T/C	—	uncertain significance
rs146533839	9:32,459,519	C/T	—	likely benign
rs752675764	9:32,459,526	A/G	—	likely benign
rs185435043	9:32,459,532	C/T	—	likely benign
rs2274864	9:32,466,184	G/A	—	benign
rs45589431	9:32,466,277	C/T	—	benign
rs883948	9:32,466,278	G/A	—	benign
rs369407062	9:32,466,280	A/T	—	likely benign
rs2118683498	9:32,466,283	C/G	—	uncertain significance
rs1046722296	9:32,466,298	A/C	—	uncertain significance
rs1823266968	9:32,466,303	T/C	—	likely benign
rs904822679	9:32,466,305	C/T	—	uncertain significance
rs144181118	9:32,466,308	C/T	—	likely benign
rs372312705	9:32,466,309	G/C	—	uncertain significance
rs1281527271	9:32,466,314	A/G	—	uncertain significance
rs368263807	9:32,466,325	C/T	—	uncertain significance
rs372515643	9:32,466,326	G/A	—	uncertain significance
rs2489292841	9:32,466,329	A/C	—	uncertain significance
rs2489292853	9:32,466,335	A/C	—	uncertain significance
rs148502654	9:32,466,339	A/T	—	uncertain significance
rs781464142	9:32,466,343	A/C	—	uncertain significance
rs553716308	9:32,466,353	C/A	—	conflicting classifications of pathogenicity
rs2118684015	9:32,466,355	T/C	—	uncertain significance
rs142767943	9:32,466,361	A/G	—	uncertain significance
rs570533013	9:32,466,371	G/T	—	uncertain significance
rs539721474	9:32,466,378	T/C	—	likely benign
rs1823271514	9:32,466,391	G/C	—	uncertain significance
rs2489292997	9:32,466,399	A/G	—	likely benign
rs373292486	9:32,466,400	G/A	—	uncertain significance
rs754416719	9:32,466,442	A/G	—	uncertain significance
rs1563959059	9:32,466,447	A/G	—	likely benign
rs1413156870	9:32,466,448	A/C	—	likely benign
rs45460592	9:32,466,462	G/T	—	benign

Showing 100 of 498 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.