SORCS3
sortilin related VPS10 domain containing receptor 3
Summary
This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
Known Variants103 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs535313355 | 10:106,399,140 | T/C | — | — |
| rs562822100 | 10:106,401,120 | G/A | — | benign |
| rs2015412405 | 10:106,401,144 | C/G | — | uncertain significance |
| rs143668607 | 10:106,401,179 | G/A | — | benign |
| rs1360566197 | 10:106,401,200 | G/A | — | uncertain significance |
| rs910479980 | 10:106,401,219 | G/A | — | uncertain significance |
| rs757347409 | 10:106,401,222 | C/T | — | uncertain significance |
| rs1248897947 | 10:106,401,237 | C/T | — | uncertain significance |
| rs776422713 | 10:106,401,323 | G/C | — | uncertain significance |
| rs896551212 | 10:106,401,335 | C/A | — | likely benign |
| rs1306615154 | 10:106,401,349 | G/T | — | uncertain significance |
| rs780591673 | 10:106,401,391 | G/C | — | uncertain significance |
| rs1294006599 | 10:106,401,405 | G/T | — | uncertain significance |
| rs1199599108 | 10:106,401,407 | A/T | — | uncertain significance |
| rs533368258 | 10:106,401,590 | A/C | — | uncertain significance |
| rs375217719 | 10:106,401,608 | G/A | — | uncertain significance |
| rs1466954060 | 10:106,401,640 | C/A | — | uncertain significance |
| rs755334735 | 10:106,401,666 | C/T | — | uncertain significance |
| rs2493470350 | 10:106,401,674 | A/T | — | uncertain significance |
| rs2493470361 | 10:106,401,680 | G/T | — | uncertain significance |
| rs11192154 | 10:106,433,250 | C/G | intron variant | — |
| rs12416372 | 10:106,458,627 | G/C | intron variant | — |
| rs181200083 | 10:106,520,975 | A/C | intron variant | — |
| rs11599313 | 10:106,559,287 | C/G | — | — |
| rs61867293 | 10:106,563,924 | C/T | intron variant | — |
| rs1565418 | 10:106,571,608 | C/T | intron variant | — |
| rs10786828 | 10:106,609,900 | A/G | intron variant | — |
| rs7894737 | 10:106,613,330 | C/G | — | — |
| rs10786831 | 10:106,614,571 | A/G | intron variant | — |
| rs547513244 | 10:106,635,841 | C/T | — | — |
| rs61867341 | 10:106,670,574 | G/A | intron variant | — |
| rs113698195 | 10:106,675,581 | T/G | — | benign |
| rs780827525 | 10:106,675,634 | G/A | — | uncertain significance |
| rs7906899 | 10:106,733,505 | A/T | — | — |
| rs140268797 | 10:106,737,105 | A/T | — | uncertain significance |
| rs368760343 | 10:106,737,171 | C/T | — | uncertain significance |
| rs1235123117 | 10:106,737,174 | C/T | — | uncertain significance |
| rs768435706 | 10:106,737,242 | G/C | — | uncertain significance |
| rs12265655 | 10:106,744,534 | T/C | intron variant | — |
| rs11591402 | 10:106,747,354 | T/G | — | — |
| rs78659521 | 10:106,763,306 | G/A | intron variant | — |
| rs10400054 | 10:106,764,193 | A/T | — | — |
| rs12252384 | 10:106,768,281 | T/G | intron variant | — |
| rs191288851 | 10:106,775,996 | G/A | intron variant | — |
| rs11192283 | 10:106,778,510 | A/C | intron variant | — |
| rs145778074 | 10:106,802,825 | A/G | — | likely benign |
| rs540369678 | 10:106,805,351 | A/T | — | — |
| rs267602357 | 10:106,849,535 | C/T | — | uncertain significance |
| rs550554404 | 10:106,849,559 | C/T | — | uncertain significance |
| rs141560719 | 10:106,849,560 | A/G | — | benign |
| rs2055689090 | 10:106,849,561 | G/A | — | uncertain significance |
| rs74157425 | 10:106,865,192 | C/T | — | benign |
| rs767222757 | 10:106,865,257 | A/C | — | uncertain significance |
| rs752889297 | 10:106,907,399 | G/A | — | uncertain significance |
| rs768182904 | 10:106,907,548 | G/T | — | uncertain significance |
| rs62620040 | 10:106,916,941 | G/A | — | benign |
| rs989139495 | 10:106,917,002 | C/T | — | uncertain significance |
| rs928150180 | 10:106,917,041 | T/A | — | uncertain significance |
| rs1043288779 | 10:106,924,118 | G/C | — | uncertain significance |
| rs150989181 | 10:106,927,037 | G/A | — | uncertain significance |
| rs751783356 | 10:106,927,067 | G/A | — | uncertain significance |
| rs184389714 | 10:106,931,373 | A/T | intron variant | — |
| rs369104603 | 10:106,937,857 | G/C | — | uncertain significance |
| rs2056419594 | 10:106,937,902 | G/A | — | likely benign |
| rs1169718147 | 10:106,937,921 | C/T | — | uncertain significance |
| rs1413331392 | 10:106,937,924 | A/C | — | uncertain significance |
| rs148482087 | 10:106,943,388 | C/T | intron variant | — |
| rs1947988 | 10:106,947,006 | C/T | regulatory region variant | — |
| rs146574756 | 10:106,959,780 | G/C | — | uncertain significance |
| rs1325016018 | 10:106,959,810 | A/G | — | uncertain significance |
| rs202188584 | 10:106,959,827 | C/A | — | likely benign |
| rs201821935 | 10:106,959,866 | C/T | — | uncertain significance |
| rs139722365 | 10:106,960,884 | C/G | — | uncertain significance |
| rs1484246 | 10:106,961,404 | G/T | — | — |
| rs116855525 | 10:106,973,325 | G/A | intron variant | — |
| rs200098588 | 10:106,974,224 | C/A | — | likely benign |
| rs758509763 | 10:106,974,255 | G/A | — | uncertain significance |
| rs757819379 | 10:106,974,288 | C/T | — | uncertain significance |
| rs200349923 | 10:106,974,289 | G/A | — | uncertain significance |
| rs2056654677 | 10:106,974,357 | A/G | — | uncertain significance |
| rs2492802345 | 10:106,974,369 | G/A | — | uncertain significance |
| rs1263733067 | 10:106,976,779 | G/T | — | uncertain significance |
| rs566206498 | 10:106,976,837 | C/T | — | likely benign |
| rs779569548 | 10:106,976,841 | C/G | — | uncertain significance |
| rs755739529 | 10:106,982,915 | A/G | — | uncertain significance |
| rs762342954 | 10:106,982,919 | G/T | — | uncertain significance |
| rs2492814341 | 10:106,982,924 | A/G | — | uncertain significance |
| rs7895991 | 10:106,996,964 | C/T | intron variant | — |
| rs371064180 | 10:107,005,343 | C/A | — | uncertain significance |
| rs564565487 | 10:107,005,354 | G/A | — | likely benign |
| rs1283461962 | 10:107,007,048 | A/G | — | uncertain significance |
| rs1221453429 | 10:107,007,078 | G/A | — | uncertain significance |
| rs771804310 | 10:107,012,537 | C/G | — | uncertain significance |
| rs369293021 | 10:107,012,620 | A/G | — | uncertain significance |
| rs144793546 | 10:107,015,519 | G/A | — | benign |
| rs41291854 | 10:107,022,160 | G/A | — | benign |
| rs2056966761 | 10:107,022,177 | C/T | — | uncertain significance |
| rs78002020 | 10:107,022,203 | G/A | — | benign |
| rs139206461 | 10:107,022,238 | C/T | — | uncertain significance |
| rs374339469 | 10:107,022,241 | G/A | — | uncertain significance |
Showing 100 of 103 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.