Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.S113*

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.S113*
c.338C>G
Surrounding Variants
1 paper
NM_198098.4
p.S113*
c.338C>A
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.L112F
c.334C>T
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.A110T
c.328G>A
1 paper
NM_198098.4
p.S117A
c.349T>G
3 papers
NM_198098.4
p.V107G
c.320T>G
5 papers
NM_198098.4
p.V107I
c.319G>A
1 paper
NM_198098.4
p.I106I
c.318C>T
1 paper
NM_198098.4
p.A105delFs
c.314delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."