Varaico: Literature-Extracted Genetic Variants

Gene:AQP6

AQP6

34 papers

RefSeq Summary

The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protei...

Pfam Domains

MIPaa 17–231UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 6

HGNC Previous Symbol

AQP2L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
4 papers
NM_001652.4
p.V234I
c.700G>A
2 papers
NM_001652.4
p.V55M
c.163G>A
1 paper
NM_001652.4
p.A3S
c.7G>T
1 paper
NM_001652.4
p.W20R
c.58T>A
1 paper
NM_001652.4
p.A22V
c.65C>T
1 paper
NM_001652.4
p.S24I
c.71G>T
1 paper
NM_001652.4
p.L64M
c.190C>A
1 paper
NM_001652.4
p.A84T
c.250G>A
1 paper
NM_001652.4
p.V101G
c.302T>G
1 paper
NM_001652.4
p.A106T
c.316G>A
1 paper
NM_001652.4
p.T112M
c.335C>T
1 paper
NM_001652.4
p.R127G
c.379C>G
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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."