IRAK4

interleukin 1 receptor associated kinase 4

Summary

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Known Variants280 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1001546175	12:44,152,740	G/T	—	uncertain significance
rs886049382	12:44,152,754	C/T	—	uncertain significance
rs570128219	12:44,152,763	G/A	—	uncertain significance
rs537056241	12:44,152,764	C/A	—	uncertain significance
rs886049383	12:44,152,775	G/A	—	uncertain significance
rs886049384	12:44,152,813	C/G	—	uncertain significance
rs4251424	12:44,153,826	C/T	upstream gene variant	—
rs1940358230	12:44,161,910	A/G	—	uncertain significance
rs1940358839	12:44,161,920	C/G	—	uncertain significance
rs752890848	12:44,161,921	A/C	—	uncertain significance
rs1287416995	12:44,161,926	C/G	—	likely benign
rs56312115	12:44,161,927	A/G	—	conflicting classifications of pathogenicity
rs1940363408	12:44,161,946	T/G	—	uncertain significance
rs377584435	12:44,161,948	C/T	missense variant	pathogenic
rs370524518	12:44,161,949	G/A	—	uncertain significance
rs2137900325	12:44,161,950	C/T	—	likely benign
rs1163230363	12:44,161,952	G/A	—	uncertain significance
rs772274120	12:44,161,958	A/G	—	uncertain significance
rs143625818	12:44,161,972	A/T	—	uncertain significance
rs2540411380	12:44,161,975	A/G	—	uncertain significance
rs768548402	12:44,161,990	A/G	—	uncertain significance
rs138116867	12:44,161,991	T/C	—	uncertain significance
rs2540411559	12:44,162,000	A/C	—	uncertain significance
rs1443126481	12:44,162,002	G/T	—	pathogenic
rs2137901159	12:44,162,005	G/A	—	uncertain significance
rs1367304662	12:44,162,007	A/T	—	likely benign
rs115877973	12:44,162,013	G/A	—	likely benign
rs1423382149	12:44,162,017	T/A	—	uncertain significance
rs565544986	12:44,162,026	G/A	—	uncertain significance
rs1402262535	12:44,162,027	C/G	—	uncertain significance
rs141039652	12:44,162,031	T/A	—	benign
rs551138584	12:44,162,037	A/G	—	likely benign
rs752850989	12:44,162,063	A/T	—	uncertain significance
rs1345805635	12:44,162,075	G/A	—	uncertain significance
rs2540412301	12:44,162,076	G/A	—	likely pathogenic
rs778147335	12:44,162,084	T/A	—	likely benign
rs771160342	12:44,162,094	T/C	—	likely benign
rs1461567	12:44,164,689	G/A	intron variant	benign
rs1321134418	12:44,165,030	G/A	—	uncertain significance
rs1266375962	12:44,165,042	C/T	—	pathogenic
rs2540425360	12:44,165,045	A/G	—	uncertain significance
rs202134282	12:44,165,067	A/C	—	uncertain significance
rs374971450	12:44,165,080	C/T	—	likely benign
rs1555167569	12:44,165,090	A/G	—	uncertain significance
rs772817746	12:44,165,092	A/C	—	likely benign
rs901161233	12:44,165,093	A/G	—	uncertain significance
rs758974509	12:44,165,127	T/C	—	uncertain significance
rs1940738214	12:44,165,145	C/T	—	uncertain significance
rs764597369	12:44,165,151	C/T	—	uncertain significance
rs17851028	12:44,165,152	G/A	—	conflicting classifications of pathogenicity
rs371634312	12:44,165,164	C/T	—	likely benign
rs1008518843	12:44,165,176	G/C	—	likely benign
rs118097313	12:44,165,186	A/G	—	benign
rs3794262	12:44,165,430	T/A	—	benign
rs4251574	12:44,165,857	C/T	—	benign
rs4251471	12:44,165,936	C/T	—	benign
rs1940831418	12:44,165,964	A/G	—	likely benign
rs1379578995	12:44,165,967	T/C	—	likely benign
rs764544279	12:44,165,971	T/C	—	likely benign
rs2540430818	12:44,165,991	C/T	—	uncertain significance
rs56338336	12:44,165,993	C/G	—	likely benign
rs1341505359	12:44,166,006	A/G	—	uncertain significance
rs756185480	12:44,166,009	C/T	—	likely benign
rs1940836736	12:44,166,010	T/C	—	uncertain significance
rs766433748	12:44,166,018	A/G	—	uncertain significance
rs752616965	12:44,166,020	A/G	—	likely benign
rs62642475	12:44,166,021	G/A	—	uncertain significance
rs1940838592	12:44,166,029	A/G	—	uncertain significance
rs1416395914	12:44,166,039	C/T	—	pathogenic
rs1379851408	12:44,166,051	C/T	—	uncertain significance
rs757025762	12:44,166,067	A/T	—	uncertain significance
rs769345767	12:44,166,081	A/G	—	uncertain significance
rs775016898	12:44,166,098	T/C	—	likely benign
rs762213099	12:44,166,099	G/C	—	uncertain significance
rs773476797	12:44,166,102	C/A	—	uncertain significance
rs147079926	12:44,166,106	G/C	—	uncertain significance
rs1317246393	12:44,166,122	C/G	—	uncertain significance
rs780919244	12:44,166,142	A/G	—	uncertain significance
rs201782959	12:44,166,154	T/A	—	conflicting classifications of pathogenicity
rs2540432308	12:44,166,163	C/T	—	uncertain significance
rs2137943516	12:44,166,178	T/C	—	likely benign
rs186000885	12:44,166,181	A/C	—	benign
rs2540432541	12:44,166,185	C/T	—	likely benign
rs4251473	12:44,166,318	A/C	—	benign
rs2540435342	12:44,166,701	T/G	—	likely benign
rs758774758	12:44,166,711	A/G	—	likely benign
rs1940921909	12:44,166,742	T/A	—	pathogenic
rs771324378	12:44,166,746	G/T	—	uncertain significance
rs886049385	12:44,166,750	G/T	—	uncertain significance
rs776810085	12:44,166,752	C/A	—	likely benign
rs141209982	12:44,166,753	A/G	—	uncertain significance
rs373731553	12:44,166,761	C/G	—	uncertain significance
rs114951157	12:44,166,771	C/T	—	pathogenic
rs186194251	12:44,166,772	G/A	—	uncertain significance
rs137949295	12:44,166,785	T/C	—	likely benign
rs1677335963	12:44,166,786	G/C	—	uncertain significance
rs377074100	12:44,166,822	G/C	—	uncertain significance
rs1940932293	12:44,166,834	T/G	—	uncertain significance
rs753538997	12:44,166,836	C/T	—	likely benign
rs370225662	12:44,166,837	G/A	—	uncertain significance

Showing 100 of 280 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.