VPS51
VPS51 subunit of GARP complex
Summary
This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs755439481 | 11:64,863,736 | C/T | — | uncertain significance |
| rs747134833 | 11:64,863,754 | C/T | — | uncertain significance |
| rs921803718 | 11:64,863,786 | C/T | — | uncertain significance |
| rs184045929 | 11:64,863,791 | G/C | — | uncertain significance |
| rs976787069 | 11:64,863,810 | C/T | — | uncertain significance |
| rs1240948546 | 11:64,863,865 | C/T | — | uncertain significance |
| rs1947769368 | 11:64,863,922 | A/T | — | uncertain significance |
| rs772067181 | 11:64,863,923 | C/G | — | uncertain significance |
| rs1590808648 | 11:64,863,958 | C/T | — | likely benign |
| rs2495837717 | 11:64,864,552 | T/C | — | uncertain significance |
| rs548892659 | 11:64,866,009 | A/G | — | — |
| rs144604807 | 11:64,875,114 | C/T | — | likely benign |
| rs1422535406 | 11:64,875,161 | C/T | — | uncertain significance |
| rs375116322 | 11:64,875,177 | C/G | — | uncertain significance |
| rs1277774798 | 11:64,875,182 | G/A | — | uncertain significance |
| rs1347950961 | 11:64,875,326 | G/A | — | uncertain significance |
| rs370039927 | 11:64,875,423 | G/C | — | likely benign |
| rs373496992 | 11:64,875,428 | G/A | — | uncertain significance |
| rs377335542 | 11:64,875,465 | C/G | — | likely benign |
| rs201701443 | 11:64,875,466 | C/A | — | uncertain significance |
| rs2539147299 | 11:64,875,469 | G/T | — | uncertain significance |
| rs770562565 | 11:64,875,488 | G/A | — | uncertain significance |
| rs1458098114 | 11:64,875,686 | C/T | — | uncertain significance |
| rs1397416441 | 11:64,875,688 | C/T | — | uncertain significance |
| rs771540063 | 11:64,875,904 | G/A | — | uncertain significance |
| rs1309960618 | 11:64,875,921 | T/A | — | uncertain significance |
| rs375782577 | 11:64,875,932 | G/T | — | uncertain significance |
| rs1273639217 | 11:64,875,956 | C/T | — | uncertain significance |
| rs767698867 | 11:64,875,963 | C/G | — | uncertain significance |
| rs745519623 | 11:64,876,013 | C/T | — | uncertain significance |
| rs749760885 | 11:64,876,037 | A/G | — | uncertain significance |
| rs1280411706 | 11:64,876,048 | G/T | — | uncertain significance |
| rs1243550697 | 11:64,876,075 | C/T | — | uncertain significance |
| rs1357548754 | 11:64,876,087 | C/A | — | uncertain significance |
| rs765044804 | 11:64,876,104 | C/T | — | likely benign |
| rs145959966 | 11:64,876,110 | C/T | — | likely benign |
| rs374731060 | 11:64,876,160 | G/A | — | uncertain significance |
| rs771038781 | 11:64,876,186 | C/T | — | uncertain significance |
| rs776971564 | 11:64,876,187 | G/A | — | uncertain significance |
| rs1947864847 | 11:64,876,241 | G/C | — | uncertain significance |
| rs149391431 | 11:64,876,272 | C/G | — | likely benign |
| rs1200525746 | 11:64,876,273 | G/A | — | uncertain significance |
| rs527307869 | 11:64,876,319 | C/T | — | uncertain significance |
| rs1405788525 | 11:64,876,351 | A/T | — | uncertain significance |
| rs1247965201 | 11:64,876,372 | A/C | — | uncertain significance |
| rs777607408 | 11:64,876,384 | C/T | — | uncertain significance |
| rs72932836 | 11:64,876,390 | C/T | — | likely benign |
| rs72932837 | 11:64,876,740 | C/T | — | benign |
| rs1203009966 | 11:64,876,776 | C/T | — | pathogenic |
| rs372048283 | 11:64,876,801 | T/C | — | uncertain significance |
| rs553871458 | 11:64,876,813 | G/A | — | uncertain significance |
| rs770701525 | 11:64,876,858 | G/A | — | uncertain significance |
| rs2539150159 | 11:64,876,962 | G/A | — | uncertain significance |
| rs146532296 | 11:64,877,200 | G/C | — | likely benign |
| rs747378351 | 11:64,877,205 | C/T | — | uncertain significance |
| rs375386887 | 11:64,877,238 | G/A | — | uncertain significance |
| rs200709758 | 11:64,877,318 | C/A | — | uncertain significance |
| rs375414539 | 11:64,877,437 | G/A | — | uncertain significance |
| rs73495060 | 11:64,877,947 | C/T | — | benign |
| rs773252794 | 11:64,877,981 | C/T | — | uncertain significance |
| rs760983305 | 11:64,877,983 | C/A | — | likely benign |
| rs1228872948 | 11:64,878,019 | C/G | — | uncertain significance |
| rs200696699 | 11:64,878,063 | G/A | — | uncertain significance |
| rs372760329 | 11:64,878,171 | C/T | — | uncertain significance |
| rs2137195557 | 11:64,878,199 | C/A | — | likely benign |
| rs138579763 | 11:64,878,234 | G/C | — | likely benign |
| rs1162428142 | 11:64,878,803 | C/T | — | uncertain significance |
| rs2539154556 | 11:64,878,982 | G/A | — | uncertain significance |
| rs2539154601 | 11:64,879,000 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.