Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.R93H

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.R93H
c.278G>A
Surrounding Variants
1 paper
NM_198098.4
p.R93P
c.278G>C
1 paper
NM_198098.4
p.R93_A94insT
c.277_281ins3
2 papers
NM_198098.4
p.I91M
c.273C>G
1 paper
NM_198098.4
p.L95_V103del0
c.284_307del24
1 paper
NM_198098.4
p.C87S
c.260G>C
1 paper
NM_198098.4
p.I99I
c.297C>T
1 paper
NM_198098.4
p.C87S
c.259T>A
1 paper
NM_198098.4
p.S86G
c.256A>G
1 paper
NM_198098.4
p.Q101K
c.301C>A
1 paper
NM_198098.4
p.C102S
c.304T>A
1 paper
NM_198098.4
p.C102S
c.305G>C
1 paper
NM_198098.4
p.L84M
c.250C>A
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