Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.G103D

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
4 papers
NM_001651.4
p.G103D
c.308G>A
Surrounding Variants
1 paper
NM_001651.4
p.G101W
c.301G>T
1 paper
NM_001651.4
p.G107S
c.319G>A
1 paper
NM_001651.4
p.V108M
c.322G>A
1 paper
NM_001651.4
p.V108E
c.323T>A
1 paper
NM_001651.4
p.P110L
c.329C>T
1 paper
NM_001651.4
p.L84delFs
c.252delG
1 paper
NM_001651.4
p.L74P
c.221T>C
1 paper
NM_001651.4
p.L74M
c.220C>A
1 paper
NM_001651.4
p.N69S
c.206A>G
1 paper
NM_001651.4
p.G65A
c.194G>C
1 paper
NM_001651.4
p.S64C
c.190A>T
1 paper
NM_001651.4
p.V63M
c.187G>A
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