AQP1 Back

aquaporin 1 (Colton blood group)

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NCBI Description of AQP1
Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene.

Community Annotation of AQP1 Add / Edit AQP1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

AQP1 is highly significantly mutated in
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AQP1 is significantly mutated in
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AQP1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for AQP1