VPS36
vacuolar protein sorting 36 homolog
Summary
This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1957987903 | 13:52,990,012 | C/G | — | uncertain significance |
| rs761384772 | 13:52,992,139 | T/G | — | uncertain significance |
| rs138713397 | 13:52,997,749 | G/A | — | uncertain significance |
| rs140039960 | 13:53,009,007 | C/T | — | uncertain significance |
| rs751102773 | 13:53,010,436 | C/A | — | uncertain significance |
| rs1037480527 | 13:53,010,534 | T/C | — | uncertain significance |
| rs1167973976 | 13:53,013,284 | A/G | — | likely benign |
| rs1233000698 | 13:53,016,534 | A/G | — | uncertain significance |
| rs772613576 | 13:53,016,542 | G/C | — | uncertain significance |
| rs188285518 | 13:53,020,105 | G/C | — | — |
| rs2547630276 | 13:53,024,648 | C/T | — | uncertain significance |
| rs1263446947 | 13:53,024,725 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.