VPS45
vacuolar protein sorting 45 homolog
Summary
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Known Variants510 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72692889 | 1:150,038,477 | G/A | — | — |
| rs11584354 | 1:150,039,047 | G/A | — | benign |
| rs3754047 | 1:150,039,207 | C/A | — | benign |
| rs9887866 | 1:150,039,267 | T/C | — | benign |
| rs74127403 | 1:150,039,297 | T/C | — | benign |
| rs74127404 | 1:150,039,403 | T/A | — | benign |
| rs200563209 | 1:150,039,911 | C/T | — | uncertain significance |
| rs2526022965 | 1:150,039,912 | G/T | — | uncertain significance |
| rs1571803153 | 1:150,039,920 | C/T | — | likely benign |
| rs1654813865 | 1:150,039,941 | G/A | — | likely benign |
| rs2526023300 | 1:150,039,947 | T/C | — | likely benign |
| rs139992347 | 1:150,039,952 | A/G | — | uncertain significance |
| rs1250860828 | 1:150,039,962 | G/A | — | likely benign |
| rs1202625228 | 1:150,039,971 | G/A | — | likely benign |
| rs2526023665 | 1:150,039,972 | C/T | — | uncertain significance |
| rs1553796186 | 1:150,039,976 | G/A | — | uncertain significance |
| rs782253570 | 1:150,039,978 | A/G | — | uncertain significance |
| rs2101472739 | 1:150,039,986 | A/G | — | likely benign |
| rs782367453 | 1:150,039,987 | C/A | — | uncertain significance |
| rs1233278099 | 1:150,039,992 | C/T | — | likely benign |
| rs2526024078 | 1:150,040,001 | A/G | — | likely benign |
| rs1387315578 | 1:150,040,007 | G/A | — | uncertain significance |
| rs2526024270 | 1:150,040,017 | C/G | — | likely benign |
| rs1654819441 | 1:150,040,021 | T/C | — | likely benign |
| rs782147790 | 1:150,040,023 | C/T | — | likely benign |
| rs2526024358 | 1:150,040,024 | T/G | — | likely benign |
| rs1654819956 | 1:150,040,025 | C/A | — | likely benign |
| rs2101473009 | 1:150,040,026 | A/T | — | likely benign |
| rs2526030426 | 1:150,040,669 | A/T | — | likely benign |
| rs1394282813 | 1:150,040,671 | T/C | — | likely benign |
| rs1553796313 | 1:150,040,682 | T/C | — | likely benign |
| rs182111359 | 1:150,040,689 | T/G | — | likely benign |
| rs1180456081 | 1:150,040,707 | A/G | — | likely benign |
| rs188130682 | 1:150,040,708 | T/A | — | uncertain significance |
| rs1553796329 | 1:150,040,709 | A/G | — | uncertain significance |
| rs1654857826 | 1:150,040,716 | A/G | — | likely benign |
| rs148944527 | 1:150,040,719 | G/A | — | benign |
| rs2526031027 | 1:150,040,723 | A/G | — | uncertain significance |
| rs2101476530 | 1:150,040,726 | C/T | — | likely benign |
| rs782284311 | 1:150,040,728 | A/G | — | likely benign |
| rs372815605 | 1:150,040,739 | T/C | — | uncertain significance |
| rs2526031264 | 1:150,040,752 | A/G | — | likely benign |
| rs1343272129 | 1:150,040,753 | C/T | — | uncertain significance |
| rs1278390607 | 1:150,040,760 | A/G | — | uncertain significance |
| rs782243131 | 1:150,040,761 | T/C | — | likely benign |
| rs782358688 | 1:150,040,763 | C/A | — | uncertain significance |
| rs1654862605 | 1:150,040,766 | A/G | — | uncertain significance |
| rs1553796352 | 1:150,040,771 | C/A | — | likely benign |
| rs2526031651 | 1:150,040,775 | A/C | — | uncertain significance |
| rs1553796358 | 1:150,040,779 | C/A | — | likely benign |
| rs1553796360 | 1:150,040,780 | A/G | — | uncertain significance |
| rs1048309972 | 1:150,040,782 | G/T | — | uncertain significance |
| rs1441537795 | 1:150,040,785 | A/T | — | uncertain significance |
| rs2526031766 | 1:150,040,787 | A/G | — | uncertain significance |
| rs1348750495 | 1:150,040,793 | A/G | — | uncertain significance |
| rs782546296 | 1:150,040,794 | G/A | — | likely benign |
| rs1553796373 | 1:150,040,797 | A/G | — | likely benign |
| rs782670487 | 1:150,040,803 | T/C | — | likely benign |
| rs2526032077 | 1:150,040,812 | A/C | — | likely benign |
| rs1374559604 | 1:150,040,813 | C/T | — | uncertain significance |
| rs782052786 | 1:150,040,816 | A/G | — | uncertain significance |
| rs782018422 | 1:150,040,828 | C/T | — | likely benign |
| rs782133423 | 1:150,040,829 | A/G | — | likely benign |
| rs1654867997 | 1:150,040,830 | T/C | — | likely benign |
| rs1559896752 | 1:150,040,838 | G/A | — | likely benign |
| rs74127405 | 1:150,040,923 | G/A | — | benign |
| rs6702453 | 1:150,041,765 | C/T | — | — |
| rs16833591 | 1:150,044,139 | C/T | — | benign |
| rs190663982 | 1:150,044,152 | C/T | intron variant | — |
| rs1400300011 | 1:150,044,214 | C/T | — | likely benign |
| rs781990380 | 1:150,044,223 | C/A | — | likely benign |
| rs2101495459 | 1:150,044,227 | T/C | — | likely benign |
| rs2101495514 | 1:150,044,233 | G/A | — | uncertain significance |
| rs782045429 | 1:150,044,238 | T/C | — | likely benign |
| rs1655111590 | 1:150,044,239 | G/A | — | uncertain significance |
| rs781882224 | 1:150,044,243 | A/T | — | uncertain significance |
| rs2526059852 | 1:150,044,246 | A/G | — | uncertain significance |
| rs62622370 | 1:150,044,250 | T/G | — | likely benign |
| rs782513242 | 1:150,044,261 | T/C | — | uncertain significance |
| rs781836307 | 1:150,044,262 | C/G | — | likely benign |
| rs782463106 | 1:150,044,263 | C/A | — | likely benign |
| rs183320612 | 1:150,044,264 | G/A | — | uncertain significance |
| rs781906938 | 1:150,044,273 | A/G | — | uncertain significance |
| rs2526060216 | 1:150,044,274 | A/G | — | likely benign |
| rs2101495807 | 1:150,044,280 | T/C | — | likely benign |
| rs140400945 | 1:150,044,289 | C/T | — | likely benign |
| rs1655115533 | 1:150,044,308 | T/G | — | likely benign |
| rs782365022 | 1:150,044,309 | C/T | — | likely benign |
| rs2526060556 | 1:150,044,312 | T/C | — | likely benign |
| rs11205325 | 1:150,044,324 | G/A | — | benign |
| rs1553798041 | 1:150,048,291 | C/A | — | likely benign |
| rs2526090352 | 1:150,048,292 | C/T | — | likely benign |
| rs1655374756 | 1:150,048,293 | C/T | — | likely benign |
| rs148026724 | 1:150,048,297 | C/T | — | benign |
| rs781872625 | 1:150,048,298 | T/G | — | likely benign |
| rs2526090445 | 1:150,048,299 | C/T | — | likely benign |
| rs192850081 | 1:150,048,301 | T/C | — | likely benign |
| rs2526090573 | 1:150,048,315 | C/T | — | likely benign |
| rs2526090597 | 1:150,048,318 | T/C | — | likely benign |
| rs139341274 | 1:150,048,320 | A/G | — | uncertain significance |
Showing 100 of 510 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.