Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.S123P

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
1 paper
NM_198098.4
p.S123P
c.367T>C
Surrounding Variants
1 paper
NM_198098.4
p.L124F
c.370C>T
1 paper
NM_198098.4
p.G125C
c.373G>T
4 papers
NM_198098.4
p.R126C
c.376C>T
1 paper
NM_198098.4
p.R126H
c.377G>A
1 paper
NM_198098.4
p.N127S
c.380A>G
1 paper
NM_198098.4
p.S117A
c.349T>G
1 paper
NM_198098.4
p.I115insFs
c.344dupT
1 paper
NM_198098.4
p.I115V
c.343A>G
1 paper
NM_198098.4
p.G114D
c.341G>A
1 paper
NM_198098.4
p.G114V
c.341G>T
1 paper
NM_198098.4
p.S113*
c.338C>A
1 paper
NM_198098.4
p.S113*
c.338C>G
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