Varaico: Literature-Extracted Genetic Variants

Gene:AQP8
Variant:p.L70L

AQP8

37 papers

RefSeq Summary

Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas ...

Pfam Domains

MIPaa 29–245UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001169.3
p.L70L
c.208C>T
Surrounding Variants
1 paper
NM_001169.3
p.G64G
c.192G>A
1 paper
NM_001169.3
p.G84E
c.251G>A
1 paper
NM_001169.3
p.L42Q
c.125T>A
1 paper
NM_001169.3
p.R33W
c.97C>T
1 paper
NM_001169.3
p.G13D
c.38G>A
1 paper
NM_001169.3
p.E4_I5Splc
c.13-5G>A
1 paper
NM_001169.3
p.N106I
c.317A>T
1 paper
NM_001169.3
p.M109I
c.327G>A
1 paper
NM_001169.3
p.M109I
c.327G>C
1 paper
NM_001169.3
p.M109I
c.327G>T
1 paper
NM_001169.3
p.P112P
c.336G>A
1 paper
NM_001169.3
p.L119fs
c.355_356fs
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