Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.T289A

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.T289A
c.865A>G
Surrounding Variants
1 paper
NM_001650.7
p.E288D
c.864G>T
1 paper
NM_001650.7
p.E288D
c.864G>C
2 papers
NM_001650.7
p.E288A
c.863A>C
1 paper
NM_001650.7
p.D290N
c.868G>A
1 paper
NM_001650.7
p.D290A
c.869A>C
1 paper
NM_001650.7
p.V287A
c.860T>C
1 paper
NM_001650.7
p.D291A
c.872A>C
1 paper
NM_001650.7
p.S285R
c.855T>G
1 paper
NM_001650.7
p.S285R
c.855T>A
1 paper
NM_001650.7
p.S285N
c.854G>A
1 paper
NM_001650.7
p.S285R
c.853A>C
1 paper
NM_001650.7
p.L294L
c.880C>T
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