Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.N76S

AQP1

198 papers

RefSeq Summary

This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradie...

Pfam Domains

MIPaa 4–227UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 1

HGNC Previous Symbol

CO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198098.4
p.N76S
c.227A>G
Surrounding Variants
1 paper
NM_198098.4
p.N76D
c.226A>G
1 paper
NM_198098.4
p.P77L
c.230C>T
2 papers
NM_198098.4
p.A78delFs
c.232delG
1 paper
NM_198098.4
p.L75H
c.224T>A
1 paper
NM_198098.4
p.P77P
c.231G>A
1 paper
NM_198098.4
p.A73G
c.218C>G
1 paper
NM_198098.4
p.G72A
c.215G>C
1 paper
NM_198098.4
p.T80T
c.240A>T
1 paper
NM_198098.4
p.G72S
c.214G>A
1 paper
NM_198098.4
p.G72C
c.214G>T
1 paper
NM_198098.4
p.L81V
c.241C>G
1 paper
NM_198098.4
p.S71C
c.211A>T
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