Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E241A

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.E241A
c.722A>C
Surrounding Variants
2 papers
NM_000486.6
p.E241fs
c.721_722fs
1 paper
NM_000486.6
p.E241fs
c.721_722fs
1 paper
NM_000486.6
p.P242fs
c.724_725fs
16 papers
NM_000486.6
p.D243delFs
c.727delG
25 papers
NM_000486.6
p.E241delFs
c.721delG
1 paper
NM_000486.6
p.D243fs
c.727_728fs
2 papers
NM_000486.6
p.T244A
c.730A>G
2 papers
NM_000486.6
p.W246insFs
c.738dupG
1 paper
NM_000486.6
p.V236_L240insFs
c.707_720dup14
1 paper
NM_000486.6
p.R233R
c.699C>A
1 paper
NM_000486.6
p.R249H
c.746G>A
1 paper
NM_000486.6
p.L234delFs
c.700delC
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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."