IL1RAPL1

interleukin 1 receptor accessory protein like 1

Summary

The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]

Known Variants213 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs762456633	X:28,605,784	T/A	—	uncertain significance
rs1057515846	X:28,605,787	G/A	—	uncertain significance
rs1057515849	X:28,606,107	C/A	—	uncertain significance
rs143054072	X:28,606,150	G/A	—	benign
rs146138116	X:28,606,178	A/C	—	benign
rs1933862850	X:28,606,195	A/C	—	uncertain significance
rs186837196	X:28,627,667	T/C	intron variant	—
rs196973	X:28,720,136	C/G	—	—
rs12009069	X:28,807,345	G/A	—	benign
rs200878713	X:28,807,441	C/T	—	benign
rs6526806	X:28,807,442	G/A	—	benign
rs773334103	X:28,807,471	C/T	—	likely benign
rs143600441	X:28,807,472	G/A	—	likely benign
rs765572976	X:28,807,481	C/T	—	benign
rs2518875104	X:28,807,485	A/G	—	uncertain significance
rs148060509	X:28,807,496	C/T	—	benign
rs781634327	X:28,807,519	A/G	—	likely benign
rs1936510432	X:28,807,521	G/T	—	uncertain significance
rs377167082	X:28,807,542	G/A	—	conflicting classifications of pathogenicity
rs2518875196	X:28,807,544	T/C	—	likely pathogenic
rs6526807	X:28,807,748	A/G	—	benign
rs12690144	X:28,807,769	T/C	—	benign
rs148509675	X:28,807,776	A/G	—	benign
rs5943462	X:28,823,154	C/G	intron variant	—
rs590796	X:28,871,086	C/G	—	benign
rs140239490	X:28,871,239	C/G	—	likely benign
rs12840085	X:28,871,324	A/G	—	benign
rs5943564	X:28,871,343	A/G	—	benign
rs143278364	X:28,896,136	T/C	—	likely benign
rs113337980	X:28,921,096	C/T	—	likely benign
rs143465747	X:28,921,097	G/A	—	likely benign
rs146673170	X:28,921,267	T/C	—	likely benign
rs634270	X:28,946,010	A/G	—	benign
rs5943630	X:29,276,212	A/C	intron variant	—
rs145543420	X:29,300,955	T/C	—	likely benign
rs180930821	X:29,301,049	C/T	—	likely benign
rs375333771	X:29,301,050	G/A	—	likely benign
rs773998745	X:29,301,056	C/T	—	conflicting classifications of pathogenicity
rs777944975	X:29,301,059	T/C	—	uncertain significance
rs201738392	X:29,301,068	T/C	—	benign
rs947463334	X:29,301,080	C/T	—	likely benign
rs868613900	X:29,301,108	G/A	—	uncertain significance
rs1293643963	X:29,301,109	G/A	—	uncertain significance
rs781674023	X:29,301,120	C/T	—	pathogenic
rs747458852	X:29,301,178	G/A	—	uncertain significance
rs138853476	X:29,301,205	A/G	—	uncertain significance
rs1030366729	X:29,301,233	G/C	—	conflicting classifications of pathogenicity
rs771532815	X:29,301,248	C/T	—	likely benign
rs2518997772	X:29,301,251	A/G	—	uncertain significance
rs1355268343	X:29,301,279	A/G	—	uncertain significance
rs751673587	X:29,301,289	G/A	—	conflicting classifications of pathogenicity
rs771224987	X:29,301,320	C/T	—	benign
rs778199033	X:29,301,321	G/A	—	uncertain significance
rs2518997867	X:29,301,327	G/T	—	uncertain significance
rs1383210759	X:29,373,162	G/A	—	uncertain significance
rs11796179	X:29,414,139	A/C	—	benign
rs760702582	X:29,414,363	G/T	—	likely benign
rs1933918055	X:29,414,387	C/G	—	likely pathogenic
rs2519091682	X:29,414,388	T/C	—	uncertain significance
rs1397912387	X:29,414,420	T/C	—	conflicting classifications of pathogenicity
rs1238348693	X:29,414,427	G/A	—	conflicting classifications of pathogenicity
rs765477668	X:29,414,436	C/G	—	uncertain significance
rs1325300642	X:29,414,453	G/A	—	likely benign
rs1933918841	X:29,414,460	T/G	—	uncertain significance
rs2519091832	X:29,414,509	A/G	—	uncertain significance
rs1933919494	X:29,414,525	A/G	—	likely benign
rs1556004666	X:29,414,535	A/G	—	uncertain significance
rs201189729	X:29,414,569	C/T	—	benign
rs370129379	X:29,414,572	C/T	—	benign
rs370844737	X:29,414,611	T/C	—	benign
rs146326087	X:29,414,745	A/C	—	likely benign
rs1933956028	X:29,417,253	T/G	—	likely benign
rs375905905	X:29,417,258	T/C	—	likely benign
rs368301683	X:29,417,268	A/G	—	benign
rs2519094101	X:29,417,277	C/A	—	pathogenic
rs750849169	X:29,417,278	A/C	—	likely benign
rs754600376	X:29,417,304	T/G	—	uncertain significance
rs2519094200	X:29,417,317	G/C	—	uncertain significance
rs1933957368	X:29,417,335	G/C	—	uncertain significance
rs752422198	X:29,417,342	G/A	—	uncertain significance
rs756024054	X:29,417,353	A/C	—	uncertain significance
rs191378384	X:29,417,363	A/T	—	likely benign
rs775759727	X:29,417,373	A/C	—	likely benign
rs764478619	X:29,417,380	T/C	—	uncertain significance
rs1337729037	X:29,417,417	C/T	—	uncertain significance
rs886041775	X:29,417,426	G/A	—	pathogenic
rs186087470	X:29,417,490	G/A	—	likely benign
rs4829347	X:29,417,510	C/A	—	benign
rs2294534	X:29,417,735	G/A	—	benign
rs5972486	X:29,633,695	A/G	intron variant	—
rs7890572	X:29,640,818	A/G	intron variant	—
rs1215706163	X:29,686,543	T/C	—	likely benign
rs2519309479	X:29,686,548	C/T	—	likely benign
rs1217973622	X:29,686,552	C/G	—	uncertain significance
rs748193306	X:29,686,569	C/A	—	likely benign
rs1180304506	X:29,686,573	C/T	—	uncertain significance
rs769905082	X:29,686,578	G/C	—	uncertain significance
rs2519309563	X:29,686,589	A/G	—	uncertain significance
rs2519309616	X:29,686,614	C/A	—	likely benign
rs59704075	X:29,686,659	C/T	—	benign

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.