rs368292687

This is a variant in the AQP5 gene that changes a arginine to an cysteine.

ClinVar annotation

Pathogenic☆☆☆
3 submitters3 publications

Palmoplantar keratoderma, Bothnian type

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About AQP5

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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