ANO1
anoctamin 1
Summary
Enables identical protein binding activity; iodide transmembrane transporter activity; and ligand-gated monoatomic ion channel activity. Involved in several processes, including monoatomic anion transport; mucus secretion; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113539282 | 11:69,811,698 | C/T | intergenic variant | — |
| rs111412755 | 11:69,819,139 | C/T | intergenic variant | — |
| rs72931779 | 11:69,833,580 | C/A | — | — |
| rs141881060 | 11:69,842,131 | C/A | intron variant | — |
| rs902875 | 11:69,860,399 | G/C | — | — |
| rs34544557 | 11:69,911,825 | C/G | — | — |
| rs4411303 | 11:69,919,214 | A/T | upstream gene variant | — |
| rs368903830 | 11:69,924,729 | A/G | — | uncertain significance |
| rs757351269 | 11:69,924,735 | C/G | — | uncertain significance |
| rs199763025 | 11:69,924,755 | C/T | — | uncertain significance |
| rs765946675 | 11:69,924,803 | C/G | — | uncertain significance |
| rs2509133 | 11:69,933,717 | T/C | regulatory region variant | — |
| rs368534768 | 11:69,933,921 | G/A | — | uncertain significance |
| rs371739615 | 11:69,933,978 | C/T | — | uncertain significance |
| rs369009893 | 11:69,933,992 | G/A | — | likely benign |
| rs373880950 | 11:69,934,066 | C/T | — | uncertain significance |
| rs764375332 | 11:69,934,069 | C/T | — | uncertain significance |
| rs370908183 | 11:69,934,129 | G/T | — | uncertain significance |
| rs757934686 | 11:69,934,180 | G/C | — | uncertain significance |
| rs542259870 | 11:69,934,184 | C/A | — | uncertain significance |
| rs199813787 | 11:69,934,185 | G/A | — | uncertain significance |
| rs10751097 | 11:69,938,433 | A/G | intron variant | — |
| rs550717562 | 11:69,949,178 | A/G | — | uncertain significance |
| rs867890923 | 11:69,949,238 | G/A | — | uncertain significance |
| rs571554646 | 11:69,950,114 | A/G | — | uncertain significance |
| rs768285449 | 11:69,954,481 | C/T | — | uncertain significance |
| rs577991916 | 11:69,957,260 | C/T | — | likely benign |
| rs371652411 | 11:69,957,846 | C/T | — | uncertain significance |
| rs755015798 | 11:69,962,576 | G/A | — | uncertain significance |
| rs374646185 | 11:69,970,464 | C/T | — | likely benign |
| rs770424543 | 11:69,970,468 | G/C | — | uncertain significance |
| rs773055104 | 11:69,970,517 | T/C | — | uncertain significance |
| rs747820898 | 11:69,972,175 | T/C | — | uncertain significance |
| rs1590804282 | 11:69,972,227 | G/A | — | uncertain significance |
| rs556644243 | 11:69,976,114 | G/A | — | — |
| rs776936154 | 11:69,978,123 | G/A | — | uncertain significance |
| rs367716754 | 11:69,978,125 | G/A | — | uncertain significance |
| rs553969695 | 11:69,978,149 | G/A | — | uncertain significance |
| rs2496835743 | 11:69,978,156 | T/C | — | uncertain significance |
| rs1300715948 | 11:69,978,167 | G/A | — | uncertain significance |
| rs7939912 | 11:69,982,096 | G/A | intron variant | — |
| rs117222198 | 11:69,988,348 | C/T | regulatory region variant | — |
| rs12279397 | 11:69,995,059 | A/T | — | — |
| rs2135625521 | 11:69,995,830 | G/T | — | likely pathogenic |
| rs201272431 | 11:69,995,833 | C/A | — | likely benign |
| rs1459928181 | 11:69,995,867 | G/A | — | uncertain significance |
| rs10793017 | 11:70,000,459 | G/T | downstream gene variant | — |
| rs568010170 | 11:70,002,011 | C/G | — | likely benign |
| rs1306428114 | 11:70,002,020 | C/T | — | uncertain significance |
| rs2047796992 | 11:70,002,027 | A/G | — | uncertain significance |
| rs115600146 | 11:70,003,045 | T/C | — | benign |
| rs768065543 | 11:70,003,054 | C/A | — | uncertain significance |
| rs12295837 | 11:70,004,367 | G/C | — | — |
| rs875107 | 11:70,005,374 | C/A | regulatory region variant | — |
| rs200007571 | 11:70,007,273 | G/A | — | uncertain significance |
| rs773592156 | 11:70,007,294 | G/A | — | uncertain significance |
| rs34284544 | 11:70,007,335 | C/T | — | benign |
| rs201870990 | 11:70,007,354 | G/A | — | likely benign |
| rs776046934 | 11:70,007,391 | C/T | — | uncertain significance |
| rs757292916 | 11:70,007,439 | G/A | — | uncertain significance |
| rs2276068 | 11:70,007,484 | C/G | intron variant | — |
| rs768971478 | 11:70,007,740 | C/T | — | uncertain significance |
| rs35916165 | 11:70,007,798 | T/C | — | benign |
| rs375335468 | 11:70,009,404 | G/A | — | likely benign |
| rs2497233087 | 11:70,011,597 | A/G | — | pathogenic |
| rs1362981884 | 11:70,013,376 | A/C | — | uncertain significance |
| rs200606553 | 11:70,013,397 | C/G | — | uncertain significance |
| rs200463172 | 11:70,013,405 | C/T | — | likely benign |
| rs764791417 | 11:70,013,431 | G/A | — | uncertain significance |
| rs142457332 | 11:70,013,870 | G/A | intron variant | — |
| rs2497302924 | 11:70,017,014 | C/T | — | pathogenic |
| rs2497303430 | 11:70,017,038 | T/C | — | uncertain significance |
| rs376719362 | 11:70,017,121 | G/A | — | uncertain significance |
| rs2048449242 | 11:70,017,142 | A/G | — | uncertain significance |
| rs368994897 | 11:70,026,136 | A/G | — | likely benign |
| rs746941342 | 11:70,028,740 | G/A | — | uncertain significance |
| rs367687484 | 11:70,028,753 | A/G | — | uncertain significance |
| rs2497462497 | 11:70,028,756 | A/T | — | uncertain significance |
| rs529433183 | 11:70,031,713 | A/C | — | uncertain significance |
| rs1292562502 | 11:70,031,725 | C/T | — | uncertain significance |
| rs2497537078 | 11:70,033,899 | A/G | — | uncertain significance |
| rs200636852 | 11:70,033,902 | A/T | — | uncertain significance |
| rs114452299 | 11:70,033,945 | G/C | — | uncertain significance |
| rs755455317 | 11:70,033,988 | A/G | — | uncertain significance |
| rs200970906 | 11:70,034,002 | G/A | — | benign |
| rs375579993 | 11:70,034,018 | G/A | — | uncertain significance |
| rs61731870 | 11:70,034,065 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.