Varaico: Literature-Extracted Genetic Variants

Gene:AQP1

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
1–12 of 196 variants
16 papers
NM_198098.4
p.A45V
c.134C>T
8 papers
NM_198098.4
p.C189S
c.565T>A
8 papers
NM_198098.4
p.C189S
c.566G>C
7 papers
NM_198098.4
p.G165D
c.494G>A
5 papers
NM_198098.4
p.P38L
c.113C>T
5 papers
NM_198098.4
p.Q47R
c.140A>G
5 papers
NM_198098.4
p.V107I
c.319G>A
5 papers
NM_198098.4
p.R195W
c.583C>T
4 papers
NM_198098.4
p.R126C
c.376C>T
4 papers
NM_198098.4
p.V153M
c.457G>A
4 papers
NM_198098.4
p.N192K
c.576C>A
4 papers
NM_198098.4
p.N192K
c.576C>G
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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."