LRP6

LDL receptor related protein 6

Summary

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]

Known Variants428 total

rsidPosition (GRCh37)AllelesClassClinVar
rs216052512:12,270,290A/T——
rs7145713012:12,271,574C/T3 prime UTR variant—
rs194959934412:12,274,079G/A—uncertain significance
rs156552130812:12,274,080G/A—uncertain significance
rs13890245812:12,274,102G/A—likely benign
rs249855437112:12,274,119T/C—uncertain significance
rs14057306212:12,274,183G/A—benign
rs249855587912:12,274,253A/G—uncertain significance
rs75594999812:12,274,275G/A—uncertain significance
rs130682707812:12,274,301G/C—uncertain significance
rs77901019112:12,274,302T/G—uncertain significance
rs14563953712:12,274,318G/T—likely benign
rs194960333812:12,274,323G/T—uncertain significance
rs20064944112:12,274,334C/T—uncertain significance
rs76143037912:12,274,335G/A—uncertain significance
rs76023828312:12,274,351G/A—likely benign
rs122052902012:12,274,360A/T—likely benign
rs77177336812:12,277,479T/G—likely benign
rs13812728612:12,277,521G/A—conflicting classifications of pathogenicity
rs249857788912:12,277,535T/C—uncertain significance
rs249857835712:12,277,560A/G—uncertain significance
rs14955876412:12,277,562C/T—uncertain significance
rs78129261712:12,277,576G/C—likely benign
rs56009229812:12,277,616A/C—likely benign
rs7693850812:12,277,732T/C—benign
rs1230537812:12,277,847T/G—benign
rs7674699812:12,278,052A/G—benign
rs213684143812:12,278,232C/G—uncertain significance
rs77930595912:12,278,234G/A—uncertain significance
rs77041925112:12,278,239G/A—benign
rs14417512112:12,278,243G/A—uncertain significance
rs14592624912:12,278,290G/A—likely benign
rs55574639612:12,278,300T/C—uncertain significance
rs37624800012:12,278,303G/C—uncertain significance
rs37036039412:12,278,304G/T—uncertain significance
rs37407277912:12,278,309C/A—uncertain significance
rs91699080112:12,278,315C/T—uncertain significance
rs20061307912:12,278,322C/T—uncertain significance
rs105549222812:12,278,325T/A—uncertain significance
rs76170339712:12,278,346T/C—uncertain significance
rs124834264212:12,278,366C/G—uncertain significance
rs130575120912:12,278,379G/A—likely benign
rs1242433212:12,278,467T/C—benign
rs230268412:12,278,468A/T—benign
rs1242436112:12,278,687T/G—benign
rs447753212:12,279,361G/A—benign
rs382525812:12,279,395T/C—benign
rs14635763712:12,279,605A/G—benign
rs74895163812:12,279,615C/T—likely benign
rs249859562612:12,279,634A/G—uncertain significance
rs86932064712:12,279,639G/A—uncertain significance
rs74800415912:12,279,642A/G—uncertain significance
rs213684719112:12,279,672G/C—uncertain significance
rs77683369912:12,279,690T/C—uncertain significance
rs77552608712:12,279,694C/G—uncertain significance
rs194967741912:12,279,706T/A—uncertain significance
rs75212860212:12,279,707A/G—likely benign
rs75335677712:12,279,723T/A—uncertain significance
rs3481510712:12,279,735C/T—benign
rs14714485212:12,279,743C/A—uncertain significance
rs13948004712:12,279,793C/A—conflicting classifications of pathogenicity
rs86932064612:12,279,801C/T—uncertain significance
rs37371822512:12,279,817C/T—benign
rs77467404412:12,279,822T/C—uncertain significance
rs14966038612:12,279,831T/C—benign
rs249859821712:12,279,844C/A—pathogenic
rs75245750612:12,279,851C/T—likely benign
rs75810397812:12,279,852G/A—uncertain significance
rs86932064012:12,279,857T/C—pathogenic
rs15003876512:12,279,872A/C—benign
rs1231120212:12,283,453G/A—benign
rs1230653712:12,283,464T/C—benign
rs249862678312:12,283,701T/C—likely benign
rs14543165512:12,283,736C/G—conflicting classifications of pathogenicity
rs36963431712:12,283,772G/A—likely benign
rs77970948312:12,283,804G/A—uncertain significance
rs74829903412:12,283,808C/G—uncertain significance
rs76128787112:12,283,826C/T—likely benign
rs194974273212:12,283,831G/A—likely benign
rs20218025512:12,283,832A/G—benign
rs213686190912:12,283,833A/G—likely benign
rs18917738412:12,283,839A/C—benign
rs795973412:12,284,031A/T—benign
rs796267612:12,284,054T/C—benign
rs963024912:12,284,104C/T—benign
rs1231320012:12,284,590G/A—benign
rs249863822512:12,284,761A/G—uncertain significance
rs18641651912:12,284,777T/A—uncertain significance
rs90443836912:12,284,791T/G—uncertain significance
rs103414523412:12,284,855C/A—uncertain significance
rs194976512312:12,284,873A/G—likely benign
rs37682692912:12,284,879T/C—likely benign
rs101267212:12,284,915G/Asynonymous variantbenign
rs75280742812:12,284,918C/A—likely benign
rs75845884412:12,284,919C/T—uncertain significance
rs133535010812:12,284,920G/T—likely benign
rs249864015612:12,284,921C/T—pathogenic
rs141816168312:12,284,947C/T—uncertain significance
rs78168081412:12,284,951C/A—likely benign
rs74642791612:12,284,952G/A—uncertain significance

Showing 100 of 428 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.