LRP8
LDL receptor related protein 8
Summary
This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5177 | 1:53,711,735 | G/T | — | — |
| rs753711512 | 1:53,712,719 | A/G | — | likely benign |
| rs5174 | 1:53,712,727 | C/T | missense variant | risk factor |
| rs1302208314 | 1:53,715,075 | C/T | — | uncertain significance |
| rs751658240 | 1:53,715,098 | T/G | — | uncertain significance |
| rs776696675 | 1:53,715,174 | T/C | — | uncertain significance |
| rs75854125 | 1:53,715,795 | T/C | intron variant | — |
| rs13328658 | 1:53,716,391 | T/G | — | uncertain significance |
| rs3737983 | 1:53,716,416 | G/T | missense variant | — |
| rs549507345 | 1:53,716,419 | T/G | — | uncertain significance |
| rs1317827909 | 1:53,716,465 | C/T | — | uncertain significance |
| rs147172505 | 1:53,716,481 | G/A | — | uncertain significance |
| rs5173 | 1:53,716,491 | T/C | — | benign |
| rs1645926947 | 1:53,718,088 | G/A | — | likely benign |
| rs1265644023 | 1:53,720,794 | G/A | — | uncertain significance |
| rs374161826 | 1:53,720,798 | C/T | — | uncertain significance |
| rs112833513 | 1:53,722,953 | G/A | — | likely benign |
| rs774825648 | 1:53,722,975 | G/T | — | uncertain significance |
| rs5172 | 1:53,723,993 | C/T | — | likely benign |
| rs139703435 | 1:53,724,026 | A/C | — | uncertain significance |
| rs759730582 | 1:53,724,094 | G/A | — | likely benign |
| rs780560767 | 1:53,726,237 | A/C | — | uncertain significance |
| rs372186863 | 1:53,727,862 | A/C | — | uncertain significance |
| rs767691715 | 1:53,727,864 | C/T | — | uncertain significance |
| rs186786897 | 1:53,727,885 | G/A | — | benign |
| rs142333579 | 1:53,728,160 | G/T | — | uncertain significance |
| rs759967814 | 1:53,728,170 | G/T | — | uncertain significance |
| rs753827442 | 1:53,728,216 | C/A | — | uncertain significance |
| rs199652254 | 1:53,732,139 | G/A | — | likely benign |
| rs79170417 | 1:53,732,147 | A/G | — | benign |
| rs140949391 | 1:53,732,157 | C/T | — | uncertain significance |
| rs778615945 | 1:53,732,185 | G/A | — | uncertain significance |
| rs578053398 | 1:53,732,197 | C/G | — | uncertain significance |
| rs2525773473 | 1:53,732,203 | C/T | — | uncertain significance |
| rs5180 | 1:53,732,215 | C/T | — | uncertain significance |
| rs758343793 | 1:53,732,266 | C/T | — | uncertain significance |
| rs2297660 | 1:53,732,315 | G/A | synonymous variant | — |
| rs10788951 | 1:53,734,998 | T/G | — | — |
| rs7349164 | 1:53,735,514 | G/T | — | — |
| rs12028465 | 1:53,736,136 | G/C | — | — |
| rs151217475 | 1:53,736,706 | C/G | — | uncertain significance |
| rs2525796980 | 1:53,736,775 | A/G | — | uncertain significance |
| rs757087137 | 1:53,736,912 | C/G | — | conflicting classifications of pathogenicity |
| rs185254863 | 1:53,736,915 | G/A | — | benign |
| rs146657189 | 1:53,736,958 | A/G | — | uncertain significance |
| rs1325432144 | 1:53,737,000 | T/C | — | uncertain significance |
| rs769819834 | 1:53,737,014 | C/T | — | likely benign |
| rs10788952 | 1:53,738,100 | C/A | — | — |
| rs7546246 | 1:53,738,183 | A/G | downstream gene variant | — |
| rs11206133 | 1:53,739,377 | A/G | regulatory region variant | — |
| rs1291006926 | 1:53,741,369 | C/A | — | uncertain significance |
| rs143898843 | 1:53,741,410 | C/T | — | likely benign |
| rs1207216814 | 1:53,742,370 | C/A | — | uncertain significance |
| rs528389043 | 1:53,742,377 | G/A | — | likely benign |
| rs75700300 | 1:53,742,380 | C/T | — | benign |
| rs2100421630 | 1:53,742,460 | A/C | — | likely benign |
| rs1646934771 | 1:53,742,466 | T/C | — | likely benign |
| rs530899367 | 1:53,742,476 | G/A | — | benign |
| rs981535795 | 1:53,742,479 | G/C | — | likely benign |
| rs1403860083 | 1:53,742,504 | G/A | — | uncertain significance |
| rs1165378015 | 1:53,742,558 | C/T | — | uncertain significance |
| rs1205921531 | 1:53,742,621 | C/G | — | uncertain significance |
| rs1327359298 | 1:53,742,700 | C/T | — | uncertain significance |
| rs1252649197 | 1:53,742,717 | C/A | — | uncertain significance |
| rs1463668075 | 1:53,742,724 | C/T | — | likely benign |
| rs148468730 | 1:53,746,272 | G/C | — | benign |
| rs1449020689 | 1:53,746,307 | C/T | — | uncertain significance |
| rs75624781 | 1:53,746,320 | C/T | — | benign |
| rs1225033899 | 1:53,746,369 | G/A | — | uncertain significance |
| rs145027161 | 1:53,746,379 | C/T | — | uncertain significance |
| rs756359424 | 1:53,755,302 | G/A | — | uncertain significance |
| rs2788032 | 1:53,777,631 | A/G | — | — |
| rs2526076030 | 1:53,792,560 | C/T | — | uncertain significance |
| rs375304045 | 1:53,792,617 | G/C | — | uncertain significance |
| rs1655213803 | 1:53,792,637 | T/C | — | uncertain significance |
| rs3820198 | 1:53,792,651 | A/C | missense variant | — |
| rs4926972 | 1:53,793,511 | T/A | — | likely benign |
| rs1053190174 | 1:53,793,589 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.