OTOP2
otopetrin 2
Summary
Predicted to enable proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs104894651 | 17:72,919,026 | A/G | missense variant | pathogenic |
| rs104894652 | 17:72,919,056 | C/T | stop gained | pathogenic |
| rs876657419 | 17:72,919,123 | G/C | missense variant | pathogenic |
| rs998834716 | 17:72,920,735 | A/C | — | uncertain significance |
| rs369382708 | 17:72,920,747 | A/G | — | uncertain significance |
| rs773415911 | 17:72,920,764 | C/T | — | uncertain significance |
| rs778530745 | 17:72,920,803 | A/G | — | uncertain significance |
| rs763125176 | 17:72,920,834 | C/T | — | uncertain significance |
| rs2544439152 | 17:72,920,857 | T/A | — | uncertain significance |
| rs77742163 | 17:72,920,861 | C/T | — | uncertain significance |
| rs2544439582 | 17:72,921,004 | T/C | — | uncertain significance |
| rs375312935 | 17:72,921,693 | T/C | — | uncertain significance |
| rs1038620600 | 17:72,921,785 | C/G | — | uncertain significance |
| rs369052177 | 17:72,923,344 | A/T | — | uncertain significance |
| rs373104376 | 17:72,923,351 | G/A | — | likely benign |
| rs374632139 | 17:72,923,357 | G/A | — | uncertain significance |
| rs150472678 | 17:72,923,779 | C/T | — | uncertain significance |
| rs773306003 | 17:72,923,807 | C/T | — | uncertain significance |
| rs1598594547 | 17:72,926,593 | C/G | — | uncertain significance |
| rs367828252 | 17:72,926,601 | G/A | — | uncertain significance |
| rs759569263 | 17:72,926,637 | G/A | — | uncertain significance |
| rs141455683 | 17:72,926,682 | G/A | — | benign |
| rs761320824 | 17:72,926,730 | G/T | — | uncertain significance |
| rs763119635 | 17:72,926,791 | G/A | — | uncertain significance |
| rs201285735 | 17:72,926,794 | G/A | — | uncertain significance |
| rs774664244 | 17:72,926,853 | G/A | — | uncertain significance |
| rs767767234 | 17:72,926,856 | G/A | — | uncertain significance |
| rs1388704336 | 17:72,926,919 | G/A | — | uncertain significance |
| rs751207230 | 17:72,926,965 | C/G | — | uncertain significance |
| rs146656559 | 17:72,927,027 | G/A | — | uncertain significance |
| rs145305698 | 17:72,927,109 | G/C | — | uncertain significance |
| rs200336109 | 17:72,927,171 | G/A | — | likely benign |
| rs1004320104 | 17:72,927,178 | C/G | — | uncertain significance |
| rs367599522 | 17:72,929,492 | G/A | — | uncertain significance |
| rs35589289 | 17:72,929,516 | C/G | — | benign |
| rs138994724 | 17:72,929,522 | A/C | — | uncertain significance |
| rs371281189 | 17:72,929,552 | C/T | — | uncertain significance |
| rs201682015 | 17:72,929,593 | C/T | — | uncertain significance |
| rs201440902 | 17:72,929,618 | T/A | — | uncertain significance |
| rs373828761 | 17:72,929,629 | G/A | — | uncertain significance |
| rs11650478 | 17:72,929,700 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.