IL6R

interleukin 6 receptor

Summary

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]

Known Variants268 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117525971	1:154,377,576	G/T	regulatory region variant	—
rs4845617	1:154,377,898	G/C	—	—
rs894754581	1:154,378,112	G/T	—	uncertain significance
rs867881689	1:154,378,115	G/T	—	uncertain significance
rs2149196136	1:154,378,152	C/T	—	uncertain significance
rs1438000486	1:154,378,155	G/C	—	uncertain significance
rs528464156	1:154,378,156	A/G	—	likely benign
rs758469371	1:154,378,160	G/A	—	uncertain significance
rs1392150709	1:154,378,182	C/T	—	uncertain significance
rs912630482	1:154,378,201	C/A	—	likely benign
rs2525269301	1:154,378,202	G/T	—	likely benign
rs1329125442	1:154,378,204	G/A	—	likely benign
rs1308837940	1:154,378,209	C/T	—	likely benign
rs72698115	1:154,379,369	A/C	regulatory region variant	—
rs12083537	1:154,381,103	A/G	regulatory region variant	—
rs12090237	1:154,389,741	G/A	upstream gene variant	—
rs11265611	1:154,395,125	G/C	—	—
rs6684439	1:154,395,839	C/T	intron variant	—
rs12118770	1:154,397,589	T/A	—	—
rs187899711	1:154,398,825	A/G	intron variant	—
rs138280184	1:154,399,143	T/C	intron variant	—
rs184381572	1:154,399,464	G/A	intron variant	—
rs4845618	1:154,400,015	G/T	intron variant	—
rs139559028	1:154,400,913	C/T	intron variant	—
rs2228144	1:154,401,679	G/A	synonymous variant	benign
rs538533109	1:154,401,685	C/T	—	likely benign
rs762153528	1:154,401,686	G/A	—	uncertain significance
rs765593427	1:154,401,688	G/A	—	likely benign
rs762997891	1:154,401,691	G/C	—	likely benign
rs766474176	1:154,401,692	A/G	—	uncertain significance
rs1393806703	1:154,401,709	C/G	—	uncertain significance
rs34099703	1:154,401,712	C/T	—	benign
rs757025871	1:154,401,713	G/A	—	uncertain significance
rs1322685978	1:154,401,729	C/T	—	uncertain significance
rs1365223291	1:154,401,730	G/A	—	likely benign
rs138458259	1:154,401,741	C/T	—	uncertain significance
rs779555183	1:154,401,750	A/G	—	uncertain significance
rs747537633	1:154,401,754	C/G	—	likely benign
rs1455492560	1:154,401,758	G/T	—	uncertain significance
rs78133617	1:154,401,780	C/T	—	likely benign
rs367578267	1:154,401,783	C/A	—	uncertain significance
rs773375947	1:154,401,791	T/C	—	uncertain significance
rs2229237	1:154,401,796	T/C	—	benign
rs2525457199	1:154,401,799	C/T	—	likely benign
rs2149235561	1:154,401,801	G/A	—	uncertain significance
rs147678204	1:154,401,825	G/T	—	uncertain significance
rs750053703	1:154,401,841	G/C	—	likely benign
rs1170403303	1:154,401,844	G/T	—	likely benign
rs142365714	1:154,401,853	C/T	—	likely benign
rs145766309	1:154,401,858	C/T	—	uncertain significance
rs748663885	1:154,401,866	T/C	—	uncertain significance
rs2525458035	1:154,401,870	C/G	—	uncertain significance
rs113787847	1:154,401,871	A/G	—	likely benign
rs370155930	1:154,401,878	C/T	—	uncertain significance
rs749494588	1:154,401,879	G/A	—	conflicting classifications of pathogenicity
rs145156061	1:154,401,884	G/A	—	uncertain significance
rs200004280	1:154,401,886	C/T	—	likely benign
rs761749675	1:154,401,887	C/T	—	uncertain significance
rs373941142	1:154,401,888	G/T	—	uncertain significance
rs751246387	1:154,401,901	T/C	—	likely benign
rs1375723140	1:154,401,902	G/A	—	uncertain significance
rs2149235781	1:154,401,903	T/G	—	uncertain significance
rs2149235809	1:154,401,916	G/A	—	likely benign
rs1427644334	1:154,401,919	T/C	—	uncertain significance
rs2525458561	1:154,401,920	G/A	—	uncertain significance
rs778029868	1:154,401,930	G/T	—	likely benign
rs2525458632	1:154,401,931	C/A	—	likely benign
rs545906094	1:154,401,935	A/G	—	likely benign
rs6694817	1:154,401,972	T/C	intron variant	benign
rs576477390	1:154,401,978	A/G	—	—
rs2525466142	1:154,402,942	C/G	—	likely benign
rs2525466217	1:154,402,951	C/A	—	likely benign
rs143961356	1:154,402,966	C/T	—	likely benign
rs773270678	1:154,402,967	G/A	—	uncertain significance
rs749116155	1:154,402,968	A/T	—	uncertain significance
rs1231135963	1:154,402,978	G/C	—	uncertain significance
rs1354949457	1:154,402,987	C/T	—	likely benign
rs200103743	1:154,402,992	G/A	—	uncertain significance
rs1207804675	1:154,403,003	C/G	—	uncertain significance
rs1689235869	1:154,403,023	G/A	—	likely benign
rs150254983	1:154,403,032	T/A	—	benign
rs576589094	1:154,403,033	C/T	—	uncertain significance
rs1372284547	1:154,403,041	C/T	—	likely benign
rs1319613956	1:154,403,045	T/A	—	uncertain significance
rs1689237857	1:154,403,047	C/A	—	likely benign
rs147394499	1:154,403,052	C/T	—	uncertain significance
rs373789486	1:154,403,053	G/A	—	likely benign
rs370473905	1:154,403,066	C/T	—	uncertain significance
rs2525467614	1:154,403,089	A/G	—	likely benign
rs2525467764	1:154,403,102	C/A	—	likely benign
rs756240444	1:154,406,992	C/T	—	uncertain significance
rs368900229	1:154,407,007	G/A	—	likely benign
rs772004489	1:154,407,010	C/T	—	likely benign
rs1368570026	1:154,407,014	G/T	—	uncertain significance
rs2525496457	1:154,407,015	A/C	—	uncertain significance
rs1689496951	1:154,407,019	C/T	—	likely benign
rs779664192	1:154,407,027	C/T	—	uncertain significance
rs1468329259	1:154,407,035	T/C	—	uncertain significance
rs773716561	1:154,407,079	G/A	—	likely benign
rs143779412	1:154,407,101	A/G	—	uncertain significance

Showing 100 of 268 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.