Varaico: Literature-Extracted Genetic Variants

Gene:AQP9
Variant:p.A118T

AQP9

62 papers

RefSeq Summary

The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of non...

Pfam Domains

MIPaa 1–197UCSCMajor intrinsic protein
MIPaa 17–262UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 9

HGNC Alias Symbols

SSC1; HsT17287

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020980.5
p.A118T
c.352G>A
Surrounding Variants
1 paper
NM_020980.5
p.V120I
c.358G>A
1 paper
NM_020980.5
p.D126N
c.376G>A
1 paper
NM_020980.5
p.V106V
c.318G>A
1 paper
NM_020980.5
p.R96Q
c.287G>A
1 paper
NM_020980.5
p.V139M
c.415G>A
2 papers
NM_020980.5
p.A159V
c.476C>T
1 paper
NM_020980.5
p.V166M
c.496G>A
2 papers
NM_020980.5
p.A187V
c.560C>T
1 paper
NM_020980.5
p.L191Q
c.572T>A
1 paper
NM_020980.5
p.R219*
c.655C>T
1 paper
NM_020980.5
p.R219Q
c.656G>A
1 paper
NM_020980.5
p.D220N
c.658G>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."