AQP5
aquaporin 5
Summary
Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1373414214 | 12:50,355,833 | C/A | — | likely benign |
| rs1947430075 | 12:50,355,873 | G/A | — | uncertain significance |
| rs139623970 | 12:50,355,888 | G/A | — | uncertain significance |
| rs398123054 | 12:50,355,913 | C/A | missense variant | pathogenic |
| rs398123055 | 12:50,355,934 | T/G | missense variant | pathogenic |
| rs147337355 | 12:50,355,993 | G/A | — | conflicting classifications of pathogenicity |
| rs375720885 | 12:50,356,056 | C/T | — | uncertain significance |
| rs372058000 | 12:50,356,057 | G/A | — | uncertain significance |
| rs761326596 | 12:50,356,129 | C/T | — | uncertain significance |
| rs755928749 | 12:50,356,135 | A/G | — | uncertain significance |
| rs747075251 | 12:50,356,155 | G/A | — | likely benign |
| rs372046995 | 12:50,356,169 | T/G | — | benign |
| rs11169227 | 12:50,356,177 | G/A | — | benign |
| rs143028034 | 12:50,357,260 | G/C | — | benign |
| rs398123057 | 12:50,357,278 | A/G | missense variant | pathogenic |
| rs2137159654 | 12:50,357,280 | C/A | — | uncertain significance |
| rs771274265 | 12:50,357,291 | C/T | — | uncertain significance |
| rs370911310 | 12:50,357,292 | G/A | — | likely benign |
| rs139276257 | 12:50,357,371 | C/T | — | likely benign |
| rs753119460 | 12:50,357,375 | C/T | — | uncertain significance |
| rs778284854 | 12:50,357,396 | C/T | — | uncertain significance |
| rs143095944 | 12:50,357,410 | C/T | — | benign |
| rs148929905 | 12:50,357,436 | C/T | — | benign |
| rs745563552 | 12:50,357,437 | G/A | — | likely pathogenic |
| rs367984015 | 12:50,357,452 | G/A | — | likely benign |
| rs398123056 | 12:50,357,875 | A/T | missense variant | pathogenic |
| rs2548004662 | 12:50,357,878 | T/C | — | uncertain significance |
| rs2137160656 | 12:50,357,879 | A/G | — | uncertain significance |
| rs768614872 | 12:50,357,888 | G/T | — | uncertain significance |
| rs368292687 | 12:50,357,908 | C/T | missense variant | pathogenic |
| rs117761535 | 12:50,357,924 | C/T | — | likely benign |
| rs202006860 | 12:50,357,938 | C/G | — | uncertain significance |
| rs145485849 | 12:50,357,949 | C/T | — | benign |
| rs3736309 | 12:50,358,054 | A/G | upstream gene variant | benign |
| rs296753 | 12:50,358,073 | C/G | — | benign |
| rs923911 | 12:50,358,174 | C/A | — | benign |
| rs11169229 | 12:50,358,468 | A/G | — | benign |
| rs296754 | 12:50,358,544 | T/C | — | benign |
| rs75180659 | 12:50,358,796 | G/A | — | benign |
| rs766801870 | 12:50,358,803 | C/T | — | uncertain significance |
| rs148637740 | 12:50,358,866 | G/A | — | uncertain significance |
| rs747365491 | 12:50,358,868 | G/A | — | uncertain significance |
| rs374603563 | 12:50,358,884 | G/T | — | conflicting classifications of pathogenicity |
| rs41308104 | 12:50,358,888 | A/G | — | benign |
| rs2548006093 | 12:50,358,892 | G/A | — | uncertain significance |
| rs150715551 | 12:50,358,901 | G/A | — | benign |
| rs757051423 | 12:50,358,904 | G/A | — | uncertain significance |
| rs748231984 | 12:50,358,928 | C/T | — | uncertain significance |
| rs139421403 | 12:50,358,929 | G/A | — | benign |
| rs150292051 | 12:50,358,956 | G/A | — | likely benign |
| rs296755 | 12:50,359,248 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.