AQP4
aquaporin 4
Summary
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1058424 | 18:24,435,545 | A/T | 3 prime UTR variant | — |
| rs3763043 | 18:24,435,818 | C/T | 3 prime UTR variant | — |
| rs200498749 | 18:24,436,192 | C/T | — | uncertain significance |
| rs2054839331 | 18:24,436,228 | C/T | — | uncertain significance |
| rs73396660 | 18:24,436,253 | C/T | — | benign |
| rs768757331 | 18:24,436,260 | G/C | — | uncertain significance |
| rs774609951 | 18:24,436,274 | G/T | — | uncertain significance |
| rs766479946 | 18:24,436,281 | G/A | — | likely benign |
| rs72557972 | 18:24,436,328 | T/C | — | benign |
| rs886513761 | 18:24,436,335 | T/C | — | uncertain significance |
| rs201862553 | 18:24,436,369 | G/A | — | uncertain significance |
| rs372829102 | 18:24,436,433 | G/C | — | uncertain significance |
| rs2511170860 | 18:24,436,453 | T/C | — | uncertain significance |
| rs371557672 | 18:24,440,759 | T/A | — | uncertain significance |
| rs774171660 | 18:24,440,783 | G/A | — | uncertain significance |
| rs148498248 | 18:24,440,786 | C/T | — | pathogenic |
| rs2511181412 | 18:24,441,122 | A/T | — | uncertain significance |
| rs61731037 | 18:24,441,129 | A/G | — | likely benign |
| rs140954190 | 18:24,441,141 | A/G | — | uncertain significance |
| rs61731038 | 18:24,441,155 | A/T | — | benign |
| rs200102632 | 18:24,442,187 | C/A | — | uncertain significance |
| rs1598516446 | 18:24,442,207 | C/G | — | uncertain significance |
| rs61731042 | 18:24,442,210 | A/G | — | likely benign |
| rs1555661648 | 18:24,442,261 | C/G | — | likely pathogenic |
| rs2511184751 | 18:24,442,283 | T/C | — | uncertain significance |
| rs771316211 | 18:24,442,383 | C/A | — | uncertain significance |
| rs35248760 | 18:24,442,392 | C/A | — | benign |
| rs201354429 | 18:24,442,493 | A/G | — | conflicting classifications of pathogenicity |
| rs141793428 | 18:24,442,513 | T/C | — | likely benign |
| rs150587304 | 18:24,442,537 | C/G | — | likely benign |
| rs63514 | 18:24,443,421 | C/A | — | — |
| rs4800773 | 18:24,444,981 | G/T | — | — |
| rs774486714 | 18:24,445,624 | C/A | — | uncertain significance |
| rs190801689 | 18:24,445,627 | C/A | — | benign |
| rs162008 | 18:24,445,692 | C/T | 5 prime UTR variant | — |
| rs2075575 | 18:24,446,526 | G/A | upstream gene variant | — |
| rs151244 | 18:24,446,719 | T/C | upstream gene variant | — |
| rs72878794 | 18:24,446,803 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.