AOC1
amine oxidase copper containing 1
Summary
This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2052129 | 7:150,548,972 | G/T | intron variant | — |
| rs2268999 | 7:150,552,965 | A/T | regulatory region variant | — |
| rs10156191 | 7:150,553,605 | C/T | missense variant | — |
| rs571251831 | 7:150,553,616 | G/A | — | uncertain significance |
| rs950891895 | 7:150,553,618 | G/C | — | uncertain significance |
| rs201476675 | 7:150,553,626 | C/T | — | likely benign |
| rs373918366 | 7:150,553,628 | G/A | — | likely benign |
| rs1799780451 | 7:150,553,629 | G/A | — | uncertain significance |
| rs750871073 | 7:150,553,688 | G/A | — | uncertain significance |
| rs1266536391 | 7:150,553,893 | C/T | — | uncertain significance |
| rs761385425 | 7:150,554,148 | G/A | — | uncertain significance |
| rs772904427 | 7:150,554,150 | C/T | — | uncertain significance |
| rs753795261 | 7:150,554,166 | T/C | — | uncertain significance |
| rs1799804924 | 7:150,554,252 | G/A | — | likely benign |
| rs773593619 | 7:150,554,292 | G/T | — | uncertain significance |
| rs2485895945 | 7:150,554,316 | A/T | — | uncertain significance |
| rs758936955 | 7:150,554,367 | G/T | — | uncertain significance |
| rs370340838 | 7:150,554,396 | C/T | — | uncertain significance |
| rs543446294 | 7:150,554,421 | G/A | — | uncertain significance |
| rs1799813760 | 7:150,554,439 | C/T | — | uncertain significance |
| rs370642540 | 7:150,554,471 | C/T | — | uncertain significance |
| rs200005221 | 7:150,554,484 | G/C | — | conflicting classifications of pathogenicity |
| rs751990526 | 7:150,554,496 | A/G | — | uncertain significance |
| rs1049742 | 7:150,554,553 | C/T | missense variant | — |
| rs368116193 | 7:150,554,588 | G/A | — | uncertain significance |
| rs766806992 | 7:150,554,592 | G/A | — | uncertain significance |
| rs757894506 | 7:150,554,598 | C/T | — | uncertain significance |
| rs191291587 | 7:150,554,675 | G/A | — | uncertain significance |
| rs536600538 | 7:150,554,681 | G/A | — | uncertain significance |
| rs756815729 | 7:150,554,720 | G/A | — | uncertain significance |
| rs779732006 | 7:150,554,733 | C/T | — | uncertain significance |
| rs758550670 | 7:150,554,757 | C/G | — | uncertain significance |
| rs2071514 | 7:150,554,887 | G/A | synonymous variant | — |
| rs765176273 | 7:150,554,916 | G/A | — | uncertain significance |
| rs1373409908 | 7:150,554,965 | C/G | — | uncertain significance |
| rs45558339 | 7:150,554,995 | G/A | missense variant | — |
| rs765084312 | 7:150,555,011 | G/A | — | uncertain significance |
| rs374941578 | 7:150,555,017 | G/A | — | uncertain significance |
| rs2485901917 | 7:150,555,078 | G/A | — | uncertain significance |
| rs1312517355 | 7:150,555,842 | T/C | — | likely benign |
| rs370388971 | 7:150,555,983 | G/A | — | uncertain significance |
| rs201521612 | 7:150,555,989 | A/G | — | uncertain significance |
| rs1049748 | 7:150,556,002 | T/G | synonymous variant | — |
| rs199683227 | 7:150,556,061 | G/A | — | uncertain significance |
| rs2485907830 | 7:150,556,099 | C/T | — | uncertain significance |
| rs758700017 | 7:150,557,612 | A/G | — | uncertain significance |
| rs1049793 | 7:150,557,665 | C/T | missense variant | — |
| rs150589026 | 7:150,557,704 | G/A | — | uncertain significance |
| rs35070995 | 7:150,557,707 | A/C | missense variant | benign |
| rs781356994 | 7:150,557,711 | T/C | — | uncertain significance |
| rs368330728 | 7:150,558,050 | C/A | — | uncertain significance |
| rs1485925902 | 7:150,558,053 | T/C | — | uncertain significance |
| rs1799955968 | 7:150,558,193 | C/G | — | uncertain significance |
| rs763355453 | 7:150,558,262 | C/G | — | uncertain significance |
| rs572130558 | 7:150,558,288 | A/G | — | likely benign |
| rs2071517 | 7:150,558,399 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.