Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.D303_K310del0

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.D303_K310del0
c.907_930del24
Surrounding Variants
1 paper
NM_001650.7
p.E308_K310ins1
c.924_929dup6
1 paper
NM_001650.7
p.E308_K310del0
c.924_929del6
1 paper
NM_001650.7
p.K310ins1
c.929_930insGCT
1 paper
NM_001650.7
p.K310ins2
c.929_930ins6
1 paper
NM_001650.7
p.E309_K310ins0
c.927_929dupGAA
1 paper
NM_001650.7
p.V304_G312del0
c.912_935del24
1 paper
NM_001650.7
p.D303_R306Fs
c.908_918delinsGCAFs
1 paper
NM_001650.7
p.Q315P
c.944A>C
1 paper
NM_001650.7
p.D305Y
c.913G>T
1 paper
NM_001650.7
p.V304I
c.910G>A
1 paper
NM_001650.7
p.V319I
c.955G>A
1 paper
NM_001650.7
p.L320delFs
c.958delA
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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."