Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.I172T

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.I172T
c.515T>C
Surrounding Variants
1 paper
NM_198098.4
p.G173_S175insFs
c.519_525dup7
1 paper
NM_198098.4
p.L174insFs
c.521_522insT
1 paper
NM_198098.4
p.S175S
c.525T>C
1 paper
NM_198098.4
p.S175_V176insFs
c.525_526ins7
1 paper
NM_198098.4
p.A168V
c.503C>T
2 papers
NM_198098.4
p.V176E
c.527T>A
3 papers
NM_198098.4
p.S167L
c.500C>T
1 paper
NM_198098.4
p.S167T
c.499T>A
1 paper
NM_198098.4
p.S167_L174delFs
c.499_520del22
7 papers
NM_198098.4
p.G165D
c.494G>A
1 paper
NM_198098.4
p.H180N
c.538C>A
1 paper
NM_198098.4
p.H180L
c.539A>T
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