Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.V251_R252insFs

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.V251_R252insFs
c.753_754insC
Surrounding Variants
1 paper
NM_000486.6
p.R252*
c.754C>T
1 paper
NM_000486.6
p.R252insFs
c.754_755insGC
1 paper
NM_000486.6
p.V251fs
c.751_752fs
1 paper
NM_000486.6
p.V251fs
c.751_752fs
1 paper
NM_000486.6
p.V251_H260delFs
c.752_780del29
3 papers
NM_000486.6
p.E250delFs
c.750delG
1 paper
NM_000486.6
p.R253fs
c.757_758fs
2 papers
NM_000486.6
p.E250K
c.748G>A
1 paper
NM_000486.6
p.E250delFs
c.749delA
1 paper
NM_000486.6
p.R254G
c.760C>G
5 papers
NM_000486.6
p.R254W
c.760C>T
3 papers
NM_000486.6
p.Q255_E258delFs
c.763_772del10
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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."