Varaico: Literature-Extracted Genetic Variants

Gene:AQP3
Variant:p.F63I

AQP3

68 papers

RefSeq Summary

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is l...

Pfam Domains

MIPaa 16–162UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 3

HGNC Alias Symbol

GIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004925.5
p.F63I
c.187T>A
Surrounding Variants
1 paper
NM_004925.5
p.G64C
c.190G>T
2 papers
NM_004925.5
p.G64R
c.190G>C
1 paper
NM_004925.5
p.N60Y
c.178A>T
1 paper
NM_004925.5
p.A74S
c.220G>T
1 paper
NM_004925.5
p.L48L
c.144C>T
1 paper
NM_004925.5
p.V47L
c.139G>T
1 paper
NM_004925.5
p.V47L
c.139G>C
1 paper
NM_004925.5
p.V47M
c.139G>A
2 papers
NM_004925.5
p.V43M
c.127G>A
1 paper
NM_004925.5
p.C40S
c.119G>C
1 paper
NM_004925.5
p.C40S
c.118T>A
1 paper
NM_004925.5
p.M37I
c.111G>T
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