Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.G211A

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.G211A
c.632G>C
Surrounding Variants
5 papers
NM_000486.6
p.G211R
c.631G>C
1 paper
NM_000486.6
p.A212T
c.634G>A
1 paper
NM_000486.6
p.L209V
c.625C>G
7 papers
NM_000486.6
p.G215S
c.643G>A
11 papers
NM_000486.6
p.G215C
c.643G>T
1 paper
NM_000486.6
p.G207R
c.619G>A
1 paper
NM_000486.6
p.G207R
c.619G>C
33 papers
NM_000486.6
p.S216P
c.646T>C
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
1 paper
NM_000486.6
p.W205*
c.614G>A
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