Varaico: Literature-Extracted Genetic Variants

Gene:AQP8
Variant:p.L168delFs

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.L168delFs
c.504delG
Surrounding Variants
1 paper
NM_001169.3
p.L168fs
c.502_503fs
1 paper
NM_001169.3
p.G156V
c.467G>T
1 paper
NM_001169.3
p.G156R
c.466G>C
1 paper
NM_001169.3
p.Q153*
c.457C>T
1 paper
NM_001169.3
p.G191S
c.571G>A
1 paper
NM_001169.3
p.P203P
c.609T>C
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.G120insFs
c.358dupG
1 paper
NM_001169.3
p.L119fs
c.355_356fs
1 paper
NM_001169.3
p.P112P
c.336G>A
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