Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.W59*

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.W59*
c.177G>A
Surrounding Variants
1 paper
NM_001650.7
p.W59*
c.176G>A
1 paper
NM_001650.7
p.W59delFs
c.177delC
1 paper
NM_001650.7
p.G61*
c.181G>T
1 paper
NM_001650.7
p.T62A
c.184A>G
2 papers
NM_001650.7
p.E63K
c.187G>A
2 papers
NM_001650.7
p.E63A
c.188A>C
3 papers
NM_001650.7
p.K64*
c.190A>T
1 paper
NM_001650.7
p.K64E
c.190A>G
1 paper
NM_001650.7
p.P65A
c.193C>G
2 papers
NM_001650.7
p.P65P
c.195T>C
1 paper
NM_001650.7
p.L53Q
c.158T>A
1 paper
NM_001650.7
p.P67A
c.199C>G
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