Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.S140R

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.S140R
c.420T>G
Surrounding Variants
1 paper
NM_001650.7
p.S140R
c.420T>A
1 paper
NM_001650.7
p.V141A
c.422T>C
1 paper
NM_001650.7
p.S140R
c.418A>C
1 paper
NM_001650.7
p.V142A
c.425T>C
1 paper
NM_001650.7
p.P139S
c.415C>T
1 paper
NM_001650.7
p.P138R
c.413C>G
1 paper
NM_001650.7
p.Y134C
c.401A>G
1 paper
NM_001650.7
p.V147A
c.440T>C
1 paper
NM_001650.7
p.T148A
c.442A>G
1 paper
NM_001650.7
p.M149T
c.446T>C
1 paper
NM_001650.7
p.M149_V150Splc
c.447+1G>A
1 paper
NM_001650.7
p.A130T
c.388G>A
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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."