Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.I45S

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
7 papers
NM_001651.4
p.I45S
c.134T>G
Surrounding Variants
1 paper
NM_001651.4
p.A46V
c.137C>T
1 paper
NM_001651.4
p.I42N
c.125T>A
1 paper
NM_001651.4
p.L51V
c.151C>G
2 papers
NM_001651.4
p.L51P
c.152T>C
2 papers
NM_001651.4
p.L51R
c.152T>G
9 papers
NM_001651.4
p.A38E
c.113C>A
4 papers
NM_001651.4
p.W35S
c.104G>C
1 paper
NM_001651.4
p.W35G
c.103T>G
1 paper
NM_001651.4
p.A59V
c.176C>T
1 paper
NM_001651.4
p.G30D
c.89G>A
1 paper
NM_001651.4
p.V63M
c.187G>A
1 paper
NM_001651.4
p.S64C
c.190A>T
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