Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.W231G

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.W231G
c.691T>G
Surrounding Variants
1 paper
NM_001650.7
p.E228A
c.683A>C
1 paper
NM_001650.7
p.W227G
c.679T>G
4 papers
NM_004028.5
p.M202T
c.605T>C
NM_001650.7
p.M224T
c.671T>C
1 paper
NM_001650.7
p.P220S
c.658C>T
1 paper
NM_001650.7
p.F218S
c.653T>C
4 papers
NM_001650.7
p.A215T
c.643G>A
1 paper
NM_001650.7
p.P214A
c.640C>G
1 paper
NM_001650.7
p.P214insFs
c.640_641insG
4 papers
NM_001650.7
p.I205L
c.613A>C
1 paper
NM_001650.7
p.A198_I199delFs
c.594_597del4
1 paper
NM_001650.7
p.A198_I199delFs
c.593_596del4
1 paper
NM_001650.7
p.S196C
c.587C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."