AQR
aquarius intron-binding spliceosomal factor
Summary
Enables 3'-5' RNA helicase activity and single-stranded RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3743121 | 15:35,147,345 | A/T | — | — |
| rs1055356 | 15:35,148,102 | T/C | regulatory region variant | — |
| rs184384582 | 15:35,149,108 | G/A | — | uncertain significance |
| rs555623203 | 15:35,149,156 | G/C | — | uncertain significance |
| rs573724519 | 15:35,149,171 | C/T | — | uncertain significance |
| rs373744153 | 15:35,149,182 | G/T | — | uncertain significance |
| rs368732448 | 15:35,149,207 | G/C | — | uncertain significance |
| rs758444517 | 15:35,149,271 | C/T | — | likely benign |
| rs201619100 | 15:35,152,275 | G/A | — | uncertain significance |
| rs555239193 | 15:35,155,079 | T/C | — | uncertain significance |
| rs774652926 | 15:35,155,102 | A/G | — | uncertain significance |
| rs1892805425 | 15:35,162,978 | T/G | — | likely benign |
| rs2140461543 | 15:35,163,063 | G/A | — | uncertain significance |
| rs762410262 | 15:35,166,033 | T/C | — | uncertain significance |
| rs2504241976 | 15:35,166,151 | G/A | — | uncertain significance |
| rs2504242017 | 15:35,166,182 | G/C | — | uncertain significance |
| rs748680738 | 15:35,176,782 | T/C | — | uncertain significance |
| rs562439060 | 15:35,176,864 | T/A | — | uncertain significance |
| rs1158075610 | 15:35,178,833 | C/T | — | uncertain significance |
| rs2504260967 | 15:35,185,952 | C/A | — | uncertain significance |
| rs2504263947 | 15:35,189,160 | T/C | — | uncertain significance |
| rs201758262 | 15:35,189,761 | G/A | — | uncertain significance |
| rs1453848824 | 15:35,189,824 | T/C | — | uncertain significance |
| rs745451369 | 15:35,189,836 | C/T | — | uncertain significance |
| rs200307145 | 15:35,189,862 | T/A | — | uncertain significance |
| rs2504267907 | 15:35,192,899 | G/A | — | uncertain significance |
| rs768050340 | 15:35,192,946 | T/C | — | uncertain significance |
| rs2504268056 | 15:35,193,022 | C/G | — | uncertain significance |
| rs373459371 | 15:35,198,761 | G/A | — | uncertain significance |
| rs778354785 | 15:35,198,841 | C/T | — | uncertain significance |
| rs746834702 | 15:35,198,854 | T/G | — | uncertain significance |
| rs1893477341 | 15:35,202,350 | T/C | — | uncertain significance |
| rs773309612 | 15:35,202,418 | T/C | — | uncertain significance |
| rs749357429 | 15:35,202,420 | T/G | — | uncertain significance |
| rs775882659 | 15:35,202,441 | C/T | — | uncertain significance |
| rs747328349 | 15:35,207,302 | C/T | — | uncertain significance |
| rs756553023 | 15:35,210,561 | G/C | — | uncertain significance |
| rs780236849 | 15:35,226,789 | G/A | — | uncertain significance |
| rs1237324448 | 15:35,226,834 | G/A | — | uncertain significance |
| rs200295409 | 15:35,233,157 | T/G | — | uncertain significance |
| rs372425215 | 15:35,233,175 | T/C | — | uncertain significance |
| rs2504313068 | 15:35,234,215 | G/T | — | uncertain significance |
| rs199505122 | 15:35,236,574 | G/A | — | uncertain significance |
| rs768126079 | 15:35,236,596 | A/T | — | uncertain significance |
| rs2504321903 | 15:35,240,530 | C/T | — | uncertain significance |
| rs2504327486 | 15:35,245,103 | T/C | — | uncertain significance |
| rs2305411 | 15:35,253,182 | C/T | intron variant | — |
| rs747906891 | 15:35,256,456 | C/A | — | uncertain significance |
| rs748514097 | 15:35,261,805 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.