Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.C189S

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
8 papers
NM_198098.4
p.C189S
c.566G>C
Surrounding Variants
1 paper
NM_198098.4
p.C189Y
c.566G>A
8 papers
NM_198098.4
p.C189S
c.565T>A
3 papers
NM_198098.4
p.C189W
c.567T>G
1 paper
NM_198098.4
p.C189G
c.565T>G
1 paper
NM_198098.4
p.T187A
c.559A>G
1 paper
NM_198098.4
p.N192D
c.574A>G
1 paper
NM_198098.4
p.N192Y
c.574A>T
1 paper
NM_198098.4
p.Y186C
c.557A>G
1 paper
NM_198098.4
p.Y186F
c.557A>T
4 papers
NM_198098.4
p.N192K
c.576C>A
4 papers
NM_198098.4
p.N192K
c.576C>G
2 papers
NM_198098.4
p.Y186N
c.556T>A
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