Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.V299A

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.V299A
c.896T>C
Surrounding Variants
1 paper
NM_001650.7
p.V298A
c.893T>C
1 paper
NM_001650.7
p.G297A
c.890G>C
1 paper
NM_001650.7
p.P296A
c.886C>G
1 paper
NM_001650.7
p.V304I
c.910G>A
1 paper
NM_001650.7
p.L294L
c.880C>T
1 paper
NM_001650.7
p.D305Y
c.913G>T
1 paper
NM_001650.7
p.D303_R306Fs
c.908_918delinsGCAFs
1 paper
NM_001650.7
p.D291A
c.872A>C
1 paper
NM_001650.7
p.D290A
c.869A>C
1 paper
NM_001650.7
p.D290N
c.868G>A
1 paper
NM_001650.7
p.T289A
c.865A>G
1 paper
NM_001650.7
p.E288D
c.864G>T
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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."