Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.F236C

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
2 papers
NM_004925.5
p.F236C
c.707T>G
Surrounding Variants
1 paper
NM_004925.5
p.T237M
c.710C>T
1 paper
NM_004925.5
p.S233F
c.698C>T
1 paper
NM_004925.5
p.A229V
c.686C>T
1 paper
NM_004925.5
p.L228R
c.683T>G
1 paper
NM_004925.5
p.A213S
c.637G>T
1 paper
NM_004925.5
p.Y212C
c.635A>G
1 paper
NM_004925.5
p.Y212S
c.635A>C
1 paper
NM_004925.5
p.T237M
c.710C>T
1 paper
NM_004925.5
p.S205F
c.614C>T
1 paper
NM_004925.5
p.T204N
c.611C>A
1 paper
NM_004925.5
p.G239C
c.715G>T
1 paper
NM_004925.5
p.G239S
c.715G>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."