Varaico: Literature-Extracted Genetic Variants

Gene:AQP6
Variant:p.V234I

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
Selected Variant
4 papers
NM_001652.4
p.V234I
c.700G>A
Surrounding Variants
1 paper
NM_001652.4
p.T241T
c.723C>A
1 paper
NM_001652.4
p.A243V
c.728C>T
1 paper
NM_001652.4
p.R245Q
c.734G>A
1 paper
NM_001652.4
p.G258E
c.773G>A
1 paper
NM_001652.4
p.S274L
c.821C>T
1 paper
NM_001652.4
p.H213R
c.638A>G
1 paper
NM_001652.4
p.I206S
c.617T>G
1 paper
NM_001652.4
p.G170D
c.509G>A
1 paper
NM_001652.4
p.R166G
c.496C>G
1 paper
NM_001652.4
p.S140*
c.419C>A
1 paper
NM_001652.4
p.S140*
c.419C>G
1 paper
NM_001652.4
p.L130H
c.389T>A
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