Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.F197_V201delFs

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.F197_V201delFs
c.590_602del13
Surrounding Variants
1 paper
NM_198098.4
p.S196A
c.586T>G
1 paper
NM_198098.4
p.F197C
c.590T>G
5 papers
NM_198098.4
p.R195W
c.583C>T
1 paper
NM_198098.4
p.A200V
c.599C>T
4 papers
NM_198098.4
p.V201delFs
c.601delG
4 papers
NM_198098.4
p.N192K
c.576C>A
4 papers
NM_198098.4
p.N192K
c.576C>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.V201A
c.602T>C
3 papers
NM_198098.4
p.C189W
c.567T>G
1 paper
NM_198098.4
p.C189Y
c.566G>A
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