Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.A120V

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.A120V
c.359C>T
Surrounding Variants
1 paper
NM_001650.7
p.A113_Y118Fs
c.337_353delinsGFs
1 paper
NM_001650.7
p.C123delFs
c.369delG
1 paper
NM_001650.7
p.L124L
c.372G>T
1 paper
NM_001650.7
p.A126A
c.378C>T
1 paper
NM_001650.7
p.I128V
c.382A>G
6 papers
NM_001650.7
p.I128T
c.383T>C
2 papers
NM_001650.7
p.S111T
c.332G>C
1 paper
NM_001650.7
p.S111G
c.331A>G
1 paper
NM_001650.7
p.A130T
c.388G>A
1 paper
NM_001650.7
p.I110F
c.328A>T
1 paper
NM_001650.7
p.R108delFs
c.324delC
1 paper
NM_001650.7
p.R108R
c.322A>C
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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."