Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.C29S

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.C29S
c.85T>A
Surrounding Variants
1 paper
NM_004925.5
p.C29S
c.86G>C
1 paper
NM_004925.5
p.R23G
c.67C>G
1 paper
NM_004925.5
p.L35L
c.105G>C
2 papers
NM_004925.5
p.L22V
c.64C>G
1 paper
NM_004925.5
p.L21P
c.62T>C
1 paper
NM_004925.5
p.V36_M37Splc
c.108+17G>A
1 paper
NM_004925.5
p.C11W
c.33C>G
2 papers
NM_004925.5
p.C11S
c.32G>C
2 papers
NM_004925.5
p.C11S
c.31T>A
1 paper
NM_004925.5
p.S9F
c.26C>T
1 paper
NM_004925.5
p.V8L
c.22G>T
1 paper
NM_004925.5
p.V8L
c.22G>C
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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."