Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.V103insFs

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
2 papers
NM_198098.4
p.V103insFs
c.308_309insT
Surrounding Variants
1 paper
NM_198098.4
p.V103M
c.307G>A
1 paper
NM_198098.4
p.C102S
c.305G>C
1 paper
NM_198098.4
p.C102S
c.304T>A
1 paper
NM_198098.4
p.Q101K
c.301C>A
1 paper
NM_198098.4
p.A105delFs
c.314delC
1 paper
NM_198098.4
p.I99I
c.297C>T
1 paper
NM_198098.4
p.I106I
c.318C>T
5 papers
NM_198098.4
p.V107I
c.319G>A
3 papers
NM_198098.4
p.V107G
c.320T>G
1 paper
NM_198098.4
p.A110T
c.328G>A
1 paper
NM_198098.4
p.L95_V103del0
c.284_307del24
1 paper
NM_198098.4
p.L112F
c.334C>T
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