Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.H285D

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.H285D
c.853C>G
Surrounding Variants
1 paper
NM_004925.5
p.C267S
c.800G>C
1 paper
NM_004925.5
p.C267S
c.799T>A
1 paper
NM_004925.5
p.F259S
c.776T>C
1 paper
NM_004925.5
p.S254P
c.760T>C
1 paper
NM_004925.5
p.W243G
c.727T>G
1 paper
NM_004925.5
p.G239C
c.715G>T
1 paper
NM_004925.5
p.G239S
c.715G>A
1 paper
NM_004925.5
p.T237M
c.710C>T
1 paper
NM_004925.5
p.T237M
c.710C>T
2 papers
NM_004925.5
p.F236C
c.707T>G
1 paper
NM_004925.5
p.S233F
c.698C>T
1 paper
NM_004925.5
p.A229V
c.686C>T
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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."