Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.F130F

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
3 papers
NM_004925.5
p.F130F
c.390C>T
Surrounding Variants
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.P151A
c.451C>G
1 paper
NM_004925.5
p.G153delFs
c.458delC
1 paper
NM_004925.5
p.D156Y
c.466G>T
1 paper
NM_004925.5
p.G117E
c.350G>A
1 paper
NM_004925.5
p.A107T
c.319G>A
1 paper
NM_004925.5
p.A169fs
c.505_506fs
1 paper
NM_004925.5
p.C174S
c.520T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."