The AQP4 gene homepage

General information
Gene symbol AQP4
Gene name aquaporin 4
Chromosome 18
Chromosomal band q11.2-q12.1
Imprinted Unknown
Genomic reference NG_029560.1
Transcript reference NM_001650.4
Exon/intron information NM_001650.4 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated October 21, 2020
Version AQP4:201021

Graphical displays and utilities
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001650.4.

Links to other resources
Homepage URL https://www.LOVD.nl/AQP4
HGNC 637
Entrez Gene 361
PubMed articles AQP4
OMIM - Gene 600308
HGMD AQP4
GeneCards AQP4
GeneTests AQP4
Orphanet AQP4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002726 18 transcript variant a NM_001650.4 NP_001641.1 0


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.