rs1028882622

This variant is located in the AQP9 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AQP9

The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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