Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.V85M

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.V85M
c.253G>A
Surrounding Variants
1 paper
NM_001650.7
p.G89S
c.265G>A
1 paper
NM_001650.7
p.S80G
c.238A>G
1 paper
NM_001650.7
p.S92T
c.275G>C
1 paper
NM_001650.7
p.S92N
c.275G>A
1 paper
NM_001650.7
p.G93A
c.278G>C
1 paper
NM_001650.7
p.H95R
c.284A>G
1 paper
NM_001650.7
p.I73F
c.217A>T
1 paper
NM_001650.7
p.L72P
c.215T>C
1 paper
NM_001650.7
p.P98A
c.292C>G
1 paper
NM_001650.7
p.A99T
c.295G>A
1 paper
NM_001650.7
p.V100fs
c.298_299fs
1 paper
NM_001650.7
p.M70V
c.208A>G
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