LRP1

LDL receptor related protein 1

Summary

This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]

Known Variants417 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138854007	12:57,522,257	C/G	—	benign
rs761479241	12:57,522,761	C/T	—	uncertain significance
rs770118882	12:57,522,817	G/A	—	likely benign
rs11172113	12:57,527,283	T/G	—	—
rs34810921	12:57,531,951	C/T	—	benign
rs146149784	12:57,532,311	G/A	—	uncertain significance
rs2035220723	12:57,532,334	C/T	—	uncertain significance
rs769357593	12:57,532,340	G/A	—	uncertain significance
rs144902096	12:57,532,348	C/T	—	likely benign
rs34484591	12:57,532,563	G/A	—	benign
rs715948	12:57,532,982	T/C	regulatory region variant	—
rs1466535	12:57,534,470	G/A	regulatory region variant	—
rs1799737	12:57,534,912	G/A	—	benign
rs377733290	12:57,535,177	C/A	—	likely benign
rs1799986	12:57,535,266	C/T	synonymous variant	pathogenic
rs148345722	12:57,538,777	C/T	—	likely benign
rs143263594	12:57,538,795	A/G	—	benign
rs147481235	12:57,538,849	G/A	—	benign
rs79597834	12:57,538,854	C/T	—	uncertain significance
rs1469864810	12:57,539,067	C/T	—	uncertain significance
rs1800127	12:57,539,082	T/C	—	benign
rs2548053933	12:57,539,102	C/G	—	pathogenic
rs138358068	12:57,539,145	C/T	—	uncertain significance
rs772978789	12:57,539,148	A/G	—	uncertain significance
rs35031168	12:57,539,194	G/A	—	benign
rs780761087	12:57,539,237	G/A	—	uncertain significance
rs1450589481	12:57,539,270	C/T	—	uncertain significance
rs2306692	12:57,541,265	C/T	coding sequence variant	—
rs140165336	12:57,548,050	G/A	—	uncertain significance
rs2548058085	12:57,548,062	T/A	—	uncertain significance
rs139469031	12:57,548,107	C/T	—	likely benign
rs2035579360	12:57,548,146	G/T	—	uncertain significance
rs376832342	12:57,548,329	C/T	—	uncertain significance
rs147797119	12:57,548,340	C/T	—	likely benign
rs1368755838	12:57,548,455	G/A	—	uncertain significance
rs1800137	12:57,548,466	C/T	—	benign
rs202223953	12:57,549,870	G/A	—	likely benign
rs775542853	12:57,549,885	C/A	—	uncertain significance
rs201043548	12:57,550,064	G/A	—	uncertain significance
rs142887009	12:57,550,582	C/T	—	likely benign
rs138966453	12:57,550,600	G/A	—	likely benign
rs946416971	12:57,550,632	A/G	—	uncertain significance
rs200270323	12:57,550,662	G/A	—	uncertain significance
rs144836356	12:57,550,666	C/T	—	likely benign
rs775741775	12:57,550,687	C/T	—	likely benign
rs770169648	12:57,552,199	C/G	—	uncertain significance
rs773546885	12:57,552,331	A/C	—	uncertain significance
rs771337406	12:57,552,334	G/A	—	uncertain significance
rs776319763	12:57,552,377	G/A	—	uncertain significance
rs141139469	12:57,553,665	C/T	—	uncertain significance
rs752770422	12:57,553,724	C/T	—	uncertain significance
rs139523882	12:57,554,720	G/A	—	uncertain significance
rs1247059972	12:57,554,765	A/G	—	uncertain significance
rs1274714780	12:57,554,831	G/A	—	uncertain significance
rs768571162	12:57,554,865	C/T	—	likely benign
rs2035723266	12:57,554,881	A/G	—	uncertain significance
rs35012107	12:57,555,028	G/A	—	benign
rs61461775	12:57,555,813	C/T	—	benign
rs149729113	12:57,556,158	A/T	—	uncertain significance
rs145618022	12:57,556,198	C/T	—	likely benign
rs769851229	12:57,556,206	G/A	—	uncertain significance
rs34074602	12:57,556,211	G/A	—	conflicting classifications of pathogenicity
rs759621055	12:57,556,219	C/T	—	likely benign
rs34714459	12:57,556,220	G/C	—	likely benign
rs34492744	12:57,556,236	C/T	—	benign
rs368030757	12:57,556,276	A/C	—	likely benign
rs140549523	12:57,556,672	C/T	—	likely benign
rs779570780	12:57,559,602	G/A	—	uncertain significance
rs1800174	12:57,559,809	G/A	—	benign
rs149644862	12:57,559,913	G/A	—	likely benign
rs200106514	12:57,560,709	C/A	—	pathogenic
rs1592625326	12:57,560,718	A/C	—	uncertain significance
rs371781657	12:57,560,727	C/T	—	uncertain significance
rs751016241	12:57,560,792	C/T	—	likely benign
rs137909502	12:57,560,824	C/T	—	uncertain significance
rs1800175	12:57,561,379	G/T	—	benign
rs1800176	12:57,561,451	C/T	—	benign
rs772334374	12:57,562,917	C/T	—	likely benign
rs762328607	12:57,562,948	C/T	—	likely benign
rs148649571	12:57,562,954	C/T	—	likely benign
rs2548066269	12:57,563,012	C/T	—	uncertain significance
rs111580283	12:57,565,887	G/C	intron variant	—
rs35949701	12:57,567,075	C/T	—	benign
rs1800177	12:57,567,180	G/T	—	benign
rs1386803929	12:57,567,602	A/G	—	likely benign
rs34425043	12:57,567,603	T/C	—	benign
rs1360111766	12:57,567,617	A/C	—	uncertain significance
rs143183297	12:57,567,624	C/T	—	likely benign
rs2548068254	12:57,567,639	G/C	—	uncertain significance
rs574645167	12:57,567,662	C/T	—	uncertain significance
rs749034996	12:57,567,677	A/G	—	uncertain significance
rs79365493	12:57,567,723	C/T	—	benign
rs143746304	12:57,567,739	G/A	—	uncertain significance
rs1800194	12:57,567,762	C/T	—	benign
rs1800178	12:57,569,114	A/G	—	benign
rs146906834	12:57,569,283	C/T	—	likely benign
rs1428642530	12:57,569,338	G/A	—	uncertain significance
rs35890409	12:57,569,339	G/A	—	likely benign
rs2548068980	12:57,569,410	C/T	—	uncertain significance
rs200442207	12:57,569,424	C/T	—	likely benign

Showing 100 of 417 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.