Varaico: Literature-Extracted Genetic Variants

Gene:AQP2

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
1–12 of 295 variants
87 papers
NM_000486.6
p.S256A
c.766T>G
74 papers
NM_000486.6
p.T126M
c.377C>T
71 papers
NM_000486.6
p.E258K
c.772G>A
70 papers
NM_000486.6
p.R187C
c.559C>T
44 papers
NM_000486.6
p.A147T
c.439G>A
39 papers
NM_000486.6
p.R254L
c.761G>T
39 papers
NM_000486.6
p.P262L
c.785C>T
37 papers
NM_000486.6
p.T125M
c.374C>T
33 papers
NM_000486.6
p.S216P
c.646T>C
32 papers
NM_000486.6
p.G64R
c.190G>A
32 papers
NM_000486.6
p.G64R
c.190G>C
27 papers
NM_000486.6
p.S256L
c.767C>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."