Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.S167T

AQP1

198 papers

RefSeq Summary

This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradie...

Pfam Domains

MIPaa 4–227UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 1

HGNC Previous Symbol

CO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198098.4
p.S167T
c.499T>A
Surrounding Variants
3 papers
NM_198098.4
p.S167L
c.500C>T
1 paper
NM_198098.4
p.S167_L174delFs
c.499_520del22
1 paper
NM_198098.4
p.A168V
c.503C>T
7 papers
NM_198098.4
p.G165D
c.494G>A
1 paper
NM_198098.4
p.R162C
c.484C>T
1 paper
NM_198098.4
p.R161R
c.483C>T
1 paper
NM_198098.4
p.I172T
c.515T>C
1 paper
NM_198098.4
p.R161S
c.481C>A
2 papers
NM_198098.4
p.R161C
c.481C>T
1 paper
NM_198098.4
p.G173_S175insFs
c.519_525dup7
1 paper
NM_198098.4
p.L174insFs
c.521_522insT
2 papers
NM_198098.4
p.R159Q
c.476G>A
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