Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.L135_F136del2

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.L135_F136del2
c.403_407del6
Surrounding Variants
2 papers
NM_000486.6
p.E134G
c.401A>G
1 paper
NM_000486.6
p.V133E
c.398T>A
1 paper
NM_000486.6
p.F136F
c.408C>T
6 papers
NM_000486.6
p.L137P
c.410T>C
1 paper
NM_000486.6
p.L137R
c.410T>G
3 papers
NM_000486.6
p.T138R
c.413C>G
6 papers
NM_000486.6
p.A130V
c.389C>T
1 paper
NM_000486.6
p.G128A
c.383G>C
1 paper
NM_000486.6
p.A127_G128del2
c.379_383del6
74 papers
NM_000486.6
p.T126M
c.377C>T
2 papers
NM_000486.6
p.T125K
c.374C>A
37 papers
NM_000486.6
p.T125M
c.374C>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."