Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S231A

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
1 paper
NM_000486.6
p.S231A
c.691T>G
Surrounding Variants
1 paper
NM_000486.6
p.S231delFs
c.691delT
2 papers
NM_000486.6
p.S229G
c.685A>G
1 paper
NM_000486.6
p.R233G
c.697C>G
1 paper
NM_000486.6
p.L234delFs
c.700delC
1 paper
NM_000486.6
p.K228R
c.683A>G
1 paper
NM_000486.6
p.R233R
c.699C>A
10 papers
NM_000486.6
p.K228E
c.682A>G
1 paper
NM_000486.6
p.V236_L240insFs
c.707_720dup14
2 papers
NM_000486.6
p.P226A
c.676C>G
2 papers
NM_000486.6
p.P225A
c.673C>G
1 paper
NM_000486.6
p.P225S
c.673C>T
1 paper
NM_000486.6
p.L223P
c.668T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."