Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.H80R

AQP2

429 papers

RefSeq Summary

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations i...

Pfam Domains

MIPaa 3–219UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 2

HGNC Previous Name

aquaporin 2 (collecting duct)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000486.6
p.H80R
c.239A>G
Surrounding Variants
1 paper
NM_000486.6
p.C79S
c.236G>C
1 paper
NM_000486.6
p.V81A
c.242T>C
1 paper
NM_000486.6
p.C79S
c.235T>A
2 papers
NM_000486.6
p.S82T
c.244T>A
1 paper
NM_000486.6
p.G78S
c.232G>A
1 paper
NM_000486.6
p.L76L
c.226C>T
15 papers
NM_000486.6
p.R85*
c.253C>T
1 paper
NM_000486.6
p.C75Y
c.224G>A
1 paper
NM_000486.6
p.C75S
c.224G>C
1 paper
NM_000486.6
p.R85L
c.254G>T
1 paper
NM_000486.6
p.C75S
c.223T>A
5 papers
NM_000486.6
p.A86V
c.257C>T
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