Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.G96W

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.G96W
c.286G>T
Surrounding Variants
3 papers
NM_000486.6
p.G96E
c.287G>A
1 paper
NM_000486.6
p.G96V
c.287G>T
1 paper
NM_000486.6
p.L94V
c.280C>G
1 paper
NM_000486.6
p.L94L
c.280C>T
1 paper
NM_000486.6
p.Q93Q
c.279G>A
1 paper
NM_000486.6
p.V98delins
c.293_294delinsCT
1 paper
NM_000486.6
p.Q93*
c.277C>T
1 paper
NM_000486.6
p.A99T
c.295G>A
1 paper
NM_000486.6
p.A99P
c.295G>C
1 paper
NM_000486.6
p.A92A
c.276C>A
1 paper
NM_000486.6
p.A92A
c.276C>G
1 paper
NM_000486.6
p.G100delFs
c.299delG
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