Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S216P

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
33 papers
NM_000486.6
p.S216P
c.646T>C
Surrounding Variants
1 paper
NM_000486.6
p.S216A
c.646T>G
8 papers
NM_000486.6
p.S216F
c.647C>T
1 paper
NM_000486.6
p.L217I
c.649C>A
7 papers
NM_000486.6
p.G215S
c.643G>A
11 papers
NM_000486.6
p.G215C
c.643G>T
5 papers
NM_000486.6
p.L218delFs
c.652delC
1 paper
NM_000486.6
p.L218fs
c.652_653fs
1 paper
NM_000486.6
p.L218fs
c.652_653fs
1 paper
NM_000486.6
p.Y219C
c.656A>G
1 paper
NM_000486.6
p.A212T
c.634G>A
3 papers
NM_000486.6
p.N220T
c.659A>C
1 paper
NM_000486.6
p.G211A
c.632G>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."