Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.R19I

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
5 papers
NM_001650.7
p.R19I
c.56G>T
Surrounding Variants
5 papers
NM_001650.7
p.R19T
c.56G>C
1 paper
NM_001650.7
p.T18I
c.53C>T
1 paper
NM_001650.7
p.V24A
c.71T>C
1 paper
NM_001650.7
p.V24V
c.72G>C
1 paper
NM_001650.7
p.G28_V29insFs
c.84_85insG
1 paper
NM_001650.7
p.W30delFs
c.89delC
1 paper
NM_001650.7
p.T31I
c.92C>T
1 paper
NM_001650.7
p.K36R
c.107A>G
1 paper
NM_001650.7
p.A37insFs
c.110_111insGC
1 paper
NM_001650.7
p.A37_V38insFs
c.111_112dupAG
1 paper
NM_001650.7
p.A40V
c.119C>T
1 paper
NM_001650.7
p.M45_L46insFs
c.135_136insC
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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."