Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.G117E

AQP3

68 papers

RefSeq Summary

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is l...

Pfam Domains

MIPaa 16–162UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 3

HGNC Alias Symbol

GIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004925.5
p.G117E
c.350G>A
Surrounding Variants
1 paper
NM_004925.5
p.A107T
c.319G>A
1 paper
NM_004925.5
p.F92V
c.274T>G
1 paper
NM_004925.5
p.C91S
c.272G>C
1 paper
NM_004925.5
p.C91S
c.271T>A
3 papers
NM_004925.5
p.F130F
c.390C>T
3 papers
NM_004925.5
p.D132N
c.394G>A
1 paper
NM_004925.5
p.G139V
c.416G>T
1 paper
NM_004925.5
p.N141D
c.421A>G
1 paper
NM_004925.5
p.G145S
c.433G>A
1 paper
NM_004925.5
p.G145V
c.434G>T
1 paper
NM_004925.5
p.A74S
c.220G>T
1 paper
NM_004925.5
p.P151A
c.451C>G
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