Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.R265H

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
Selected Variant
1 paper
NM_001651.4
p.R265H
c.794G>A
Surrounding Variants
1 paper
NM_001651.4
p.E261A
c.782A>C
1 paper
NM_001651.4
p.T259A
c.775A>G
1 paper
NM_001651.4
p.R256Q
c.767G>A
1 paper
NM_001651.4
p.D248N
c.742G>A
1 paper
NM_001651.4
p.E247K
c.739G>A
1 paper
NM_001651.4
p.P245H
c.734C>A
1 paper
NM_001651.4
p.Y243C
c.728A>G
1 paper
NM_001651.4
p.Y243fs
c.727_728fs
1 paper
NM_001651.4
p.R235H
c.704G>A
2 papers
NM_001651.4
p.N228K
c.684C>A
2 papers
NM_001651.4
p.N228K
c.684C>G
1 paper
NM_001651.4
p.A217S
c.649G>T
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