LDLRAP1

low density lipoprotein receptor adaptor protein 1

Summary

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

Known Variants441 total

rsidPosition (GRCh37)AllelesClassClinVar
rs9154073661:25,870,085G/A—uncertain significance
rs10447965851:25,870,090G/A—uncertain significance
rs5755697891:25,870,098G/T—uncertain significance
rs5750243131:25,870,110C/A—conflicting classifications of pathogenicity
rs8876106091:25,870,115G/T—uncertain significance
rs10575155331:25,870,120A/T—uncertain significance
rs10073635671:25,870,122G/A—uncertain significance
rs9771830261:25,870,131G/A—uncertain significance
rs1462589981:25,870,144G/C—benign
rs10575154251:25,870,153T/C—uncertain significance
rs13786572991:25,870,161G/C—likely benign
rs10195049661:25,870,190A/G—likely pathogenic
rs7789627681:25,870,195C/T—likely benign
rs14723739531:25,870,198G/T—likely benign
rs11613571671:25,870,199C/T—uncertain significance
rs9667929991:25,870,201C/T—likely benign
rs13300176751:25,870,206C/A—pathogenic
rs25238721461:25,870,207G/T—likely benign
rs13975054291:25,870,210G/A—likely benign
rs13344660611:25,870,213G/C—likely benign
rs13402165901:25,870,216G/A—likely benign
rs12505344681:25,870,223A/G—uncertain significance
rs20438579821:25,870,231C/T—likely benign
rs10575155341:25,870,234C/T—conflicting classifications of pathogenicity
rs12185728821:25,870,235A/C—uncertain significance
rs20438581701:25,870,237C/G—uncertain significance
rs20438582291:25,870,239T/A—pathogenic
rs14807872511:25,870,240G/T—uncertain significance
rs21246337601:25,870,243C/T—likely benign
rs25238733961:25,870,247C/T—pathogenic
rs25238734311:25,870,248A/C—uncertain significance
rs21246337711:25,870,252C/T—likely benign
rs10575155351:25,870,253T/C—uncertain significance
rs1219083241:25,870,254G/Tmissense variantuncertain significance
rs5327233731:25,870,255G/A—pathogenic
rs5461937711:25,870,256G/T—uncertain significance
rs8680484751:25,870,258G/T—likely benign
rs5631511541:25,870,259G/A—conflicting classifications of pathogenicity
rs13710114651:25,870,261C/G—likely benign
rs10575154621:25,870,264T/A—conflicting classifications of pathogenicity
rs20438595631:25,870,265G/A—uncertain significance
rs9289226611:25,870,267C/T—likely benign
rs13318945301:25,870,268C/T—uncertain significance
rs20438597651:25,870,269G/C—uncertain significance
rs13999197501:25,870,273C/G—uncertain significance
rs10489782471:25,870,282G/A—uncertain significance
rs25238751181:25,870,284G/T—likely benign
rs20438602681:25,870,285T/A—conflicting classifications of pathogenicity
rs15576920391:25,870,290G/A—likely benign
rs8876630651:25,870,291C/A—likely benign
rs20438606341:25,870,292G/T—uncertain significance
rs12650540121:25,870,294C/T—likely benign
rs744258321:25,876,516A/G—benign
rs25239871941:25,880,393C/T—likely benign
rs7509127981:25,880,396A/G—likely benign
rs14011621021:25,880,397C/T—likely benign
rs7635158361:25,880,399C/T—likely benign
rs7668730231:25,880,400T/C—likely benign
rs21246632751:25,880,405T/C—likely benign
rs7515801671:25,880,407C/T—likely benign
rs10476652131:25,880,408C/T—likely benign
rs12121122191:25,880,409C/G—likely benign
rs20441373511:25,880,411A/G—pathogenic
rs7551049731:25,880,412G/Csplice region variantpathogenic
rs20441375541:25,880,417G/C—likely benign
rs5721683911:25,880,426C/A—uncertain significance
rs21246634611:25,880,428G/A—pathogenic
rs7789097741:25,880,429G/A—pathogenic
rs7457975531:25,880,431C/T—uncertain significance
rs1421395011:25,880,437C/T—uncertain significance
rs1389089991:25,880,438G/C—likely benign
rs2011793391:25,880,439C/T—uncertain significance
rs7615803681:25,880,440G/A—uncertain significance
rs1429209981:25,880,446C/T—conflicting classifications of pathogenicity
rs5776269241:25,880,447G/A—likely benign
rs20441393181:25,880,456G/A—likely benign
rs7668218501:25,880,459G/T—likely benign
rs13206501941:25,880,462G/T—uncertain significance
rs5434546121:25,880,465G/A—likely benign
rs15577001581:25,880,480C/T—likely benign
rs12257142891:25,880,487A/G—uncertain significance
rs7528493461:25,880,491C/T—uncertain significance
rs7564729551:25,880,492G/A—likely benign
rs7781472321:25,880,493C/T—likely benign
rs20441410101:25,880,495A/G—likely benign
rs25239904111:25,880,502C/T—pathogenic
rs3722150691:25,880,510G/A—conflicting classifications of pathogenicity
rs21246641301:25,880,514G/A—uncertain significance
rs21246641451:25,880,516G/A—likely benign
rs20441417161:25,880,522G/A—likely benign
rs7470113771:25,880,525G/A—conflicting classifications of pathogenicity
rs7544281551:25,880,527C/T—uncertain significance
rs7808176231:25,880,528C/T—likely benign
rs1416359271:25,880,529G/A—uncertain significance
rs2020787751:25,880,531C/T—likely benign
rs7768577641:25,880,532G/A—uncertain significance
rs20441427901:25,880,541A/G—uncertain significance
rs21246643751:25,880,543G/A—likely benign
rs1996306841:25,880,546C/T—likely benign
rs7674918451:25,880,547G/A—uncertain significance

Showing 100 of 441 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.