Varaico: Literature-Extracted Genetic Variants

Gene:AQP4

AQP4

160 papers

RefSeq Summary

This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquap...

Pfam Domains

MIPaa 29–248UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 4

HGNC Alias Symbols

MIWC; AQP-4; hAQP4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 182 variants
7 papers
NM_001650.7
p.M278T
c.833T>C
6 papers
NM_001650.7
p.I128T
c.383T>C
6 papers
NM_001650.7
p.D184E
c.552T>G
6 papers
NM_001650.7
p.D184E
c.552T>A
5 papers
NM_001650.7
p.R19I
c.56G>T
5 papers
NM_001650.7
p.R19T
c.56G>C
4 papers
NM_001650.7
p.S180A
c.538T>G
4 papers
NM_001650.7
p.I205L
c.613A>C
4 papers
NM_001650.7
p.A215T
c.643G>A
3 papers
NM_001650.7
p.K64*
c.190A>T
3 papers
NM_001650.7
p.A190T
c.568G>A
3 papers
NM_001650.7
p.M224T
c.671T>C
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."