Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.R108R

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.R108R
c.322A>C
Surrounding Variants
1 paper
NM_001650.7
p.R108delFs
c.324delC
1 paper
NM_001650.7
p.I110F
c.328A>T
1 paper
NM_001650.7
p.V105L
c.313G>T
1 paper
NM_001650.7
p.V105L
c.313G>C
1 paper
NM_001650.7
p.S111G
c.331A>G
2 papers
NM_001650.7
p.S111T
c.332G>C
1 paper
NM_001650.7
p.V102E
c.305T>A
1 paper
NM_001650.7
p.V100fs
c.298_299fs
1 paper
NM_001650.7
p.A99T
c.295G>A
1 paper
NM_001650.7
p.P98A
c.292C>G
1 paper
NM_001650.7
p.A113_Y118Fs
c.337_353delinsGFs
1 paper
NM_001650.7
p.A120V
c.359C>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."