Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.D179A

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
Selected Variant
1 paper
NM_001650.7
p.D179A
c.536A>C
Surrounding Variants
4 papers
NM_001650.7
p.S180A
c.538T>G
1 paper
NM_001650.7
p.A176_S177ins0
c.528_530dupCAG
1 paper
NM_001650.7
p.A176ins0
c.526_528dupGCC
1 paper
NM_001650.7
p.F175delFs
c.525delA
1 paper
NM_001650.7
p.T183A
c.547A>G
1 paper
NM_001650.7
p.F175fs
c.523_524fs
1 paper
NM_001650.7
p.D184A
c.551A>C
6 papers
NM_001650.7
p.D184E
c.552T>G
6 papers
NM_001650.7
p.D184E
c.552T>A
1 paper
NM_001650.7
p.V185A
c.554T>C
1 paper
NM_001650.7
p.F172delFs
c.514_515delAA
1 paper
NM_001650.7
p.T186A
c.556A>G
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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."