Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.A270G

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
2 papers
NM_001650.7
p.A270G
c.809C>G
Surrounding Variants
1 paper
NM_001650.7
p.A269D
c.806C>A
1 paper
NM_001650.7
p.Q272*
c.814C>T
1 paper
NM_001650.7
p.G275fs
c.823_824fs
1 paper
NM_001650.7
p.G275A
c.824G>C
1 paper
NM_001650.7
p.A265delFs
c.793delC
7 papers
NM_001650.7
p.M278T
c.833T>C
1 paper
NM_001650.7
p.M278I
c.834G>T
1 paper
NM_001650.7
p.M278I
c.834G>C
1 paper
NM_001650.7
p.M278I
c.834G>A
1 paper
NM_001650.7
p.Y277_V280insFs
c.831_838dup8
1 paper
NM_001650.7
p.V280V
c.840G>C
1 paper
NM_001650.7
p.F258_K259ins1
c.774_775insTCG
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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."