EXOC3L2
exocyst complex component 3 like 2
Summary
The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]
Known Variants104 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11083766 | 19:45,715,490 | T/C | regulatory region variant | — |
| rs11083767 | 19:45,715,680 | T/C | downstream gene variant | — |
| rs8102712 | 19:45,715,717 | C/G | — | — |
| rs370326702 | 19:45,716,333 | C/G | — | uncertain significance |
| rs768632277 | 19:45,716,340 | C/T | — | conflicting classifications of pathogenicity |
| rs199587359 | 19:45,716,346 | C/T | — | uncertain significance |
| rs201597405 | 19:45,716,348 | C/T | — | benign |
| rs200836902 | 19:45,716,357 | C/T | — | likely benign |
| rs189063316 | 19:45,716,364 | C/T | — | benign |
| rs530109127 | 19:45,716,365 | G/A | — | uncertain significance |
| rs779999765 | 19:45,716,370 | C/T | — | uncertain significance |
| rs748055208 | 19:45,716,371 | G/A | — | uncertain significance |
| rs181444579 | 19:45,716,389 | T/C | — | benign |
| rs774038504 | 19:45,716,408 | G/T | — | likely benign |
| rs376415591 | 19:45,716,410 | G/C | — | uncertain significance |
| rs142412403 | 19:45,716,467 | G/C | — | uncertain significance |
| rs111862689 | 19:45,716,471 | G/T | — | likely benign |
| rs760177432 | 19:45,716,475 | G/A | — | uncertain significance |
| rs530663749 | 19:45,716,521 | A/G | — | likely benign |
| rs372471842 | 19:45,716,542 | C/T | — | uncertain significance |
| rs762329905 | 19:45,716,548 | G/C | — | uncertain significance |
| rs763222027 | 19:45,716,560 | G/A | — | uncertain significance |
| rs759841252 | 19:45,716,574 | C/T | — | uncertain significance |
| rs756258972 | 19:45,716,590 | C/T | — | uncertain significance |
| rs1399228854 | 19:45,716,605 | C/T | — | uncertain significance |
| rs777339452 | 19:45,719,349 | C/T | — | uncertain significance |
| rs771544428 | 19:45,719,350 | G/A | — | uncertain significance |
| rs746231519 | 19:45,719,383 | G/C | — | uncertain significance |
| rs34958174 | 19:45,719,426 | G/A | — | benign |
| rs1969832818 | 19:45,719,446 | G/C | — | uncertain significance |
| rs2513864905 | 19:45,719,450 | C/G | — | uncertain significance |
| rs73568208 | 19:45,719,463 | G/C | — | benign |
| rs370905823 | 19:45,719,472 | C/T | — | likely benign |
| rs1018908216 | 19:45,720,769 | C/G | — | likely benign |
| rs537383499 | 19:45,720,776 | C/T | — | likely benign |
| rs759472317 | 19:45,720,794 | G/C | — | uncertain significance |
| rs768964166 | 19:45,720,852 | G/A | — | likely benign |
| rs748327889 | 19:45,721,466 | C/T | — | uncertain significance |
| rs369579237 | 19:45,721,548 | C/T | — | likely benign |
| rs1167649151 | 19:45,721,552 | C/T | — | uncertain significance |
| rs773062401 | 19:45,721,553 | G/A | — | uncertain significance |
| rs762507650 | 19:45,721,555 | C/T | — | uncertain significance |
| rs143444923 | 19:45,721,556 | G/A | — | uncertain significance |
| rs1969860270 | 19:45,721,592 | G/A | — | likely benign |
| rs3826909 | 19:45,721,596 | G/A | — | benign |
| rs10406604 | 19:45,723,986 | G/A | downstream gene variant | — |
| rs346757 | 19:45,725,448 | G/T | — | — |
| rs112909419 | 19:45,726,968 | G/A | intron variant | — |
| rs1454529260 | 19:45,728,051 | C/G | — | likely benign |
| rs10411314 | 19:45,728,059 | T/C | — | benign |
| rs777456650 | 19:45,728,065 | C/T | — | uncertain significance |
| rs546141963 | 19:45,728,066 | G/A | — | likely benign |
| rs2513872095 | 19:45,728,067 | A/G | — | uncertain significance |
| rs145422378 | 19:45,728,070 | C/T | — | uncertain significance |
| rs537583453 | 19:45,728,071 | G/C | — | uncertain significance |
| rs145255138 | 19:45,728,082 | C/T | — | likely benign |
| rs2513872162 | 19:45,728,110 | A/T | — | uncertain significance |
| rs10410003 | 19:45,728,123 | C/T | — | benign |
| rs933190598 | 19:45,728,128 | C/T | — | uncertain significance |
| rs151207947 | 19:45,728,148 | C/T | — | uncertain significance |
| rs755147222 | 19:45,728,163 | G/A | — | uncertain significance |
| rs346762 | 19:45,729,123 | T/C | intron variant | — |
| rs112405270 | 19:45,730,238 | C/T | intron variant | — |
| rs773731403 | 19:45,730,902 | C/T | — | likely benign |
| rs144153757 | 19:45,730,965 | T/C | — | uncertain significance |
| rs368887693 | 19:45,731,020 | G/A | — | uncertain significance |
| rs772308631 | 19:45,731,255 | G/A | — | uncertain significance |
| rs766109742 | 19:45,731,277 | C/T | — | uncertain significance |
| rs138431712 | 19:45,731,278 | G/A | — | uncertain significance |
| rs759287672 | 19:45,731,279 | C/T | — | likely benign |
| rs755627368 | 19:45,731,300 | G/A | — | likely benign |
| rs73939819 | 19:45,731,302 | G/A | — | uncertain significance |
| rs538391435 | 19:45,731,305 | G/A | — | benign |
| rs143336723 | 19:45,731,310 | C/T | — | uncertain significance |
| rs346767 | 19:45,731,339 | G/C | — | benign |
| rs115648030 | 19:45,731,348 | C/T | — | benign |
| rs2513875637 | 19:45,731,427 | C/A | — | uncertain significance |
| rs576842051 | 19:45,731,441 | C/A | — | likely benign |
| rs187345620 | 19:45,731,483 | G/A | — | benign |
| rs1969988155 | 19:45,731,489 | C/A | — | uncertain significance |
| rs2122975686 | 19:45,731,493 | A/T | — | pathogenic |
| rs377481666 | 19:45,731,503 | G/C | — | uncertain significance |
| rs1434807586 | 19:45,731,509 | C/T | — | uncertain significance |
| rs75426681 | 19:45,731,515 | G/T | — | benign |
| rs2513875859 | 19:45,731,523 | G/A | — | uncertain significance |
| rs114777882 | 19:45,731,531 | T/C | — | benign |
| rs1210049434 | 19:45,731,539 | G/A | — | likely benign |
| rs757415310 | 19:45,735,036 | G/A | — | likely benign |
| rs201110701 | 19:45,735,090 | C/T | — | likely benign |
| rs79744739 | 19:45,735,252 | A/G | regulatory region variant | — |
| rs150907907 | 19:45,735,900 | T/C | intron variant | — |
| rs17356664 | 19:45,740,771 | C/T | upstream gene variant | — |
| rs11669910 | 19:45,741,333 | A/T | upstream gene variant | — |
| rs11669915 | 19:45,741,353 | A/G | upstream gene variant | — |
| rs576309785 | 19:45,741,978 | C/T | — | uncertain significance |
| rs11673000 | 19:45,742,011 | C/G | coding sequence variant | — |
| rs11673093 | 19:45,742,094 | G/A | coding sequence variant | — |
| rs183657985 | 19:45,742,498 | C/G | — | — |
| rs145605569 | 19:45,742,902 | C/T | intron variant | — |
| rs55787807 | 19:45,743,135 | G/T | — | — |
Showing 100 of 104 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.