Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.A87V

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.A87V
c.260C>T
Surrounding Variants
1 paper
NM_000486.6
p.A87D
c.260C>A
5 papers
NM_000486.6
p.A86V
c.257C>T
1 paper
NM_000486.6
p.R85L
c.254G>T
15 papers
NM_000486.6
p.R85*
c.253C>T
1 paper
NM_000486.6
p.V90delFs
c.268_269delGT
1 paper
NM_000486.6
p.V90E
c.269T>A
1 paper
NM_000486.6
p.A91_A92del2
c.271_275del6
1 paper
NM_000486.6
p.A92insFs
c.274_275insG
1 paper
NM_000486.6
p.A92A
c.276C>A
1 paper
NM_000486.6
p.A92A
c.276C>G
2 papers
NM_000486.6
p.S82T
c.244T>A
1 paper
NM_000486.6
p.Q93*
c.277C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."