Varaico: Literature-Extracted Genetic Variants

Gene:AQP7
Variant:p.G264V
Back to variants list

AQP7

NM_001170.3:p.G264V

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

The structural basis for glycerol permeation by human AQP7.

Zhang L et al.

Science Bulletin, 2021

Associations between Aquaglyceroporin Gene Polymorphisms and Risk of Type 2 Diabetes Mellitus.

Wang Y et al.

Biomed Research International, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Folding and stability of the aquaglyceroporin GlpF: Implications for human aqua(glycero)porin diseases.

Klein N et al.

Biochimica Et Biophysica Acta, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A0FW-01A.domain

Another cause of hyperglyceroluria: aquaporin 7 gene mutation.

Jaeken J et al.

Journal of Pediatric Gastroenterology and Nutrition, 2013

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Goubau C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN et al.

Human Genomics, 2011

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Sorani MD et al.

Human Mutation, 2008

Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation.

Kondo H et al.

European Journal of Biochemistry, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."