LRBA

LPS responsive beige-like anchor protein

Summary

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants1,739 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs150102345	4:151,186,865	C/A	—	conflicting classifications of pathogenicity
rs112101490	4:151,186,881	C/T	—	uncertain significance
rs145709687	4:151,186,882	G/A	—	conflicting classifications of pathogenicity
rs777137605	4:151,186,883	G/C	—	likely benign
rs1411005628	4:151,186,899	T/C	—	uncertain significance
rs1323561325	4:151,186,902	C/T	—	uncertain significance
rs765368768	4:151,186,904	C/A	—	likely benign
rs200336029	4:151,186,905	C/T	—	uncertain significance
rs140571055	4:151,186,906	G/A	—	uncertain significance
rs766536252	4:151,186,907	G/A	—	likely benign
rs145690847	4:151,186,916	G/A	—	likely benign
rs529665764	4:151,186,918	T/C	—	uncertain significance
rs372010196	4:151,186,920	T/G	—	uncertain significance
rs2126679937	4:151,186,927	G/C	—	uncertain significance
rs2531142167	4:151,186,933	T/C	—	uncertain significance
rs2126679981	4:151,186,934	G/T	—	uncertain significance
rs1488067407	4:151,186,952	A/G	—	likely benign
rs1163127164	4:151,186,965	C/G	—	uncertain significance
rs771560685	4:151,186,974	G/A	—	likely benign
rs893078254	4:151,186,977	C/G	—	likely benign
rs2359928	4:151,187,451	T/G	—	benign
rs1870515	4:151,198,823	T/A	—	benign
rs56145629	4:151,198,873	C/T	—	benign
rs2545708384	4:151,198,986	C/T	—	likely benign
rs1400743426	4:151,198,988	C/G	—	likely benign
rs1412488324	4:151,198,995	C/A	—	likely benign
rs1263726917	4:151,198,996	C/T	—	likely benign
rs2126741695	4:151,198,998	G/C	—	likely benign
rs2126741711	4:151,199,000	G/A	—	uncertain significance
rs2126741721	4:151,199,002	T/C	—	uncertain significance
rs191145485	4:151,199,012	C/T	—	uncertain significance
rs76608264	4:151,199,013	G/A	—	benign
rs1580874816	4:151,199,015	A/G	—	uncertain significance
rs1281451455	4:151,199,019	C/A	—	likely benign
rs566917747	4:151,199,022	C/T	—	likely benign
rs142943481	4:151,199,023	G/A	—	uncertain significance
rs1276578449	4:151,199,027	T/C	—	uncertain significance
rs779604273	4:151,199,030	C/T	—	uncertain significance
rs746707676	4:151,199,032	C/T	—	uncertain significance
rs143351602	4:151,199,033	G/A	—	uncertain significance
rs781586380	4:151,199,042	C/T	—	uncertain significance
rs766472618	4:151,199,043	G/C	—	uncertain significance
rs1470296037	4:151,199,047	C/T	—	uncertain significance
rs2545708890	4:151,199,050	C/A	—	uncertain significance
rs1171694504	4:151,199,051	C/A	—	likely pathogenic
rs555829197	4:151,199,052	T/C	—	likely benign
rs2545709046	4:151,199,064	G/A	—	likely benign
rs375863683	4:151,199,067	C/G	—	uncertain significance
rs200809013	4:151,199,070	C/G	—	benign
rs1041843743	4:151,199,079	C/T	—	likely benign
rs2290846	4:151,199,080	A/G	—	likely benign
rs765055573	4:151,199,089	C/T	—	uncertain significance
rs750339318	4:151,199,096	C/T	—	uncertain significance
rs758352394	4:151,199,097	G/A	—	likely benign
rs751058963	4:151,199,105	C/T	—	uncertain significance
rs141577859	4:151,199,108	T/C	—	uncertain significance
rs1426797484	4:151,199,109	G/C	—	uncertain significance
rs780858983	4:151,199,111	C/T	—	uncertain significance
rs867668931	4:151,199,123	G/A	—	uncertain significance
rs749223887	4:151,199,140	C/T	—	uncertain significance
rs1580875488	4:151,199,141	G/A	—	pathogenic
rs1443899249	4:151,199,142	G/A	—	likely benign
rs116828023	4:151,199,145	C/T	—	benign
rs140288109	4:151,199,155	G/A	—	uncertain significance
rs1015318367	4:151,199,156	C/T	—	uncertain significance
rs201763822	4:151,199,165	C/T	—	likely benign
rs2290847	4:151,199,497	A/G	—	benign
rs768902434	4:151,203,584	A/G	—	likely benign
rs2545727314	4:151,203,589	C/T	—	likely benign
rs767077628	4:151,203,611	A/T	—	uncertain significance
rs2545727449	4:151,203,613	C/T	—	uncertain significance
rs1747664379	4:151,203,619	T/C	—	uncertain significance
rs142722799	4:151,203,623	C/T	—	uncertain significance
rs755808118	4:151,203,626	C/T	—	likely benign
rs763826371	4:151,203,627	G/A	—	uncertain significance
rs1747666077	4:151,203,632	C/T	—	likely benign
rs1317787982	4:151,203,635	G/A	—	likely benign
rs757644967	4:151,203,649	C/T	—	uncertain significance
rs1747668514	4:151,203,651	C/T	—	uncertain significance
rs773001726	4:151,203,662	G/T	—	uncertain significance
rs1314729100	4:151,203,669	C/T	—	uncertain significance
rs746434010	4:151,203,670	C/T	—	uncertain significance
rs769184419	4:151,203,671	G/A	—	likely benign
rs147372552	4:151,203,677	A/G	—	likely benign
rs747108520	4:151,203,678	T/C	—	uncertain significance
rs186451672	4:151,203,684	A/G	—	uncertain significance
rs771972483	4:151,203,692	A/G	—	likely benign
rs372949000	4:151,203,718	G/A	—	conflicting classifications of pathogenicity
rs2126765169	4:151,203,732	C/G	—	uncertain significance
rs976207318	4:151,203,739	C/T	—	uncertain significance
rs1307266786	4:151,203,755	C/A	—	uncertain significance
rs961906798	4:151,203,756	C/T	—	uncertain significance
rs1747681288	4:151,203,761	C/T	—	likely benign
rs2545728651	4:151,203,777	G/C	—	uncertain significance
rs1461696917	4:151,203,780	T/C	—	uncertain significance
rs780738868	4:151,203,785	G/A	—	likely benign
rs752047340	4:151,203,791	T/C	—	likely benign
rs2545728793	4:151,203,801	G/A	—	uncertain significance
rs781121695	4:151,203,807	A/G	—	likely benign
rs2545728870	4:151,203,817	T/C	—	likely benign

Showing 100 of 1,739 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.