Varaico: Literature-Extracted Genetic Variants

Gene:AQP5

AQP5

84 papers

RefSeq Summary

Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the genera...

Pfam Domains

MIPaa 4–221UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
11 papers
NM_001651.4
p.R188C
c.562C>T
9 papers
NM_001651.4
p.A38E
c.113C>A
7 papers
NM_001651.4
p.I45S
c.134T>G
5 papers
NM_001651.4
p.N123D
c.367A>G
5 papers
NM_001651.4
p.N123Y
c.367A>T
5 papers
NM_001651.4
p.I177F
c.529A>T
4 papers
NM_001651.4
p.W35S
c.104G>C
4 papers
NM_001651.4
p.G103D
c.308G>A
3 papers
NM_001651.4
p.Y178C
c.533A>G
3 papers
NM_001651.4
p.V212M
c.634G>A
2 papers
NM_001651.4
p.L51P
c.152T>C
2 papers
NM_001651.4
p.L51R
c.152T>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."