ATP6V0D2
ATPase H+ transporting V0 subunit d2
Summary
Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74667635 | 8:87,111,154 | C/T | — | likely benign |
| rs757214740 | 8:87,111,236 | A/G | — | uncertain significance |
| rs2536791578 | 8:87,111,308 | T/C | — | uncertain significance |
| rs780754057 | 8:87,111,332 | T/G | — | uncertain significance |
| rs201771291 | 8:87,111,368 | G/A | — | benign |
| rs7836003 | 8:87,111,515 | A/C | — | benign |
| rs73257335 | 8:87,125,628 | G/A | — | benign |
| rs938899535 | 8:87,126,007 | T/C | — | uncertain significance |
| rs775247751 | 8:87,126,016 | T/C | — | uncertain significance |
| rs149485196 | 8:87,126,063 | C/T | — | uncertain significance |
| rs17602780 | 8:87,126,151 | G/A | — | benign |
| rs17660682 | 8:87,126,178 | G/C | — | benign |
| rs11775865 | 8:87,147,765 | A/G | intron variant | — |
| rs2466326 | 8:87,151,606 | G/C | — | benign |
| rs191844145 | 8:87,151,712 | T/C | — | uncertain significance |
| rs778992470 | 8:87,151,823 | C/T | — | uncertain significance |
| rs758625938 | 8:87,151,837 | A/G | — | uncertain significance |
| rs202091383 | 8:87,153,696 | T/G | — | uncertain significance |
| rs139832036 | 8:87,153,697 | G/A | — | uncertain significance |
| rs2536823010 | 8:87,153,726 | A/C | — | uncertain significance |
| rs55838745 | 8:87,153,904 | T/C | — | benign |
| rs17603897 | 8:87,155,037 | G/A | — | benign |
| rs1483779 | 8:87,155,094 | T/C | — | benign |
| rs75594898 | 8:87,155,225 | C/T | — | benign |
| rs10283072 | 8:87,160,417 | T/C | regulatory region variant | — |
| rs67038551 | 8:87,162,098 | T/A | — | benign |
| rs754167366 | 8:87,162,398 | A/C | — | uncertain significance |
| rs758980013 | 8:87,162,423 | A/G | — | uncertain significance |
| rs932595299 | 8:87,162,426 | C/T | — | uncertain significance |
| rs373122236 | 8:87,162,434 | G/T | — | uncertain significance |
| rs199896182 | 8:87,162,444 | A/G | — | uncertain significance |
| rs187338795 | 8:87,162,446 | C/T | — | uncertain significance |
| rs549611957 | 8:87,162,459 | G/A | — | uncertain significance |
| rs143587813 | 8:87,162,510 | A/G | — | uncertain significance |
| rs10094744 | 8:87,162,515 | G/A | — | benign |
| rs7011724 | 8:87,162,790 | G/A | — | benign |
| rs7011725 | 8:87,162,794 | G/T | — | benign |
| rs4990403 | 8:87,163,455 | T/C | — | benign |
| rs67705049 | 8:87,163,496 | C/A | — | benign |
| rs140824242 | 8:87,163,701 | A/G | — | uncertain significance |
| rs565942494 | 8:87,163,729 | G/A | — | uncertain significance |
| rs745714325 | 8:87,163,742 | A/C | — | likely benign |
| rs138573520 | 8:87,163,752 | G/A | — | uncertain significance |
| rs150698519 | 8:87,163,770 | G/T | — | benign |
| rs77595258 | 8:87,163,984 | C/T | — | likely benign |
| rs59369794 | 8:87,164,053 | C/T | — | benign |
| rs11780633 | 8:87,164,511 | C/T | downstream gene variant | — |
| rs10095107 | 8:87,164,886 | T/C | — | benign |
| rs10504820 | 8:87,165,011 | T/C | — | benign |
| rs142355302 | 8:87,165,071 | C/A | — | conflicting classifications of pathogenicity |
| rs775719901 | 8:87,165,087 | G/A | — | uncertain significance |
| rs1819176962 | 8:87,165,115 | A/G | — | uncertain significance |
| rs752246824 | 8:87,165,175 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.