Varaico: Literature-Extracted Genetic Variants

Gene:AQP9
Variant:p.G240R

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.G240R
c.718G>A
Surrounding Variants
1 paper
NM_020980.5
p.G250D
c.749G>A
1 paper
NM_020980.5
p.G250A
c.749G>C
1 paper
NM_020980.5
p.V253A
c.758T>C
1 paper
NM_020980.5
p.L260F
c.778C>T
1 paper
NM_020980.5
p.P273L
c.818C>T
1 paper
NM_020980.5
p.S275*
c.824C>A
3 papers
NM_020980.5
p.T279A
c.835A>G
1 paper
NM_020980.5
p.I294T
c.881T>C
1 paper
NM_020980.5
p.T227A
c.679A>G
1 paper
NM_020980.5
p.S222G
c.664A>G
1 paper
NM_020980.5
p.D220N
c.658G>A
1 paper
NM_020980.5
p.R219Q
c.656G>A
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