Varaico: Literature-Extracted Genetic Variants

Gene:AQP8
Variant:p.P203P

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.P203P
c.609T>C
Surrounding Variants
1 paper
NM_001169.3
p.V204M
c.610G>A
1 paper
NM_001169.3
p.A212T
c.634G>A
3 papers
NM_001169.3
p.I229M
c.687C>G
1 paper
NM_001169.3
p.R246Splc
c.738-18G>T
1 paper
NM_001169.3
p.I249I
c.747T>C
1 paper
NM_001169.3
p.G250E
c.749G>A
3 papers
NM_001169.3
p.A260P
c.778G>C
3 papers
NM_001169.3
p.R261Q
c.782G>A
1 paper
NM_001169.3
p.G191S
c.571G>A
1 paper
NM_001169.3
p.L168delFs
c.504delG
1 paper
NM_001169.3
p.L168fs
c.502_503fs
1 paper
NM_001169.3
p.G156V
c.467G>T
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