Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.C182S

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.C182S
c.544T>A
Surrounding Variants
1 paper
NM_001651.4
p.C182S
c.545G>C
1 paper
NM_001651.4
p.C182*
c.546C>A
1 paper
NM_001651.4
p.N185S
c.554A>G
3 papers
NM_001651.4
p.Y178C
c.533A>G
1 paper
NM_001651.4
p.I177N
c.530T>A
5 papers
NM_001651.4
p.I177F
c.529A>T
11 papers
NM_001651.4
p.R188C
c.562C>T
1 paper
NM_001651.4
p.G176R
c.526G>A
1 paper
NM_001651.4
p.G176R
c.526G>C
1 paper
NM_001651.4
p.L171L
c.511C>T
1 paper
NM_001651.4
p.P161Q
c.482C>A
1 paper
NM_001651.4
p.P161S
c.481C>T
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