Varaico: Literature-Extracted Genetic Variants

Gene:AQP9
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_020980.5
p.Q2Q
c.6G>A
1 paper
NM_020980.5
p.Q2H
c.6G>C
2 papers
NM_020980.5
p.E4D
c.12G>C
1 paper
NM_020980.5
p.E4D
c.12G>T
1 paper
NM_020980.5
p.A6V
c.17C>T
1 paper
NM_020980.5
p.G9R
c.25G>A
1 paper
NM_020980.5
p.G9R
c.25G>C
1 paper
NM_020980.5
p.A23V
c.68C>T
1 paper
NM_020980.5
p.S28F
c.83C>T
1 paper
NM_020980.5
p.G32C
c.94G>T
1 paper
NM_020980.5
p.L36F
c.108G>C
1 paper
NM_020980.5
p.L36F
c.108G>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."