Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.V194I

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
7 papers
NM_000486.6
p.V194I
c.580G>A
Surrounding Variants
11 papers
NM_000486.6
p.G196D
c.587G>A
1 paper
NM_000486.6
p.K197_F198del2
c.589_593del6
1 paper
NM_000486.6
p.P191S
c.571C>T
1 paper
NM_000486.6
p.A190A
c.570T>A
23 papers
NM_000486.6
p.A190T
c.568G>A
1 paper
NM_000486.6
p.S188A
c.562T>G
1 paper
NM_000486.6
p.D200G
c.599A>G
1 paper
NM_000486.6
p.D200E
c.600C>A
1 paper
NM_000486.6
p.D200E
c.600C>G
8 papers
NM_000486.6
p.R187H
c.560G>A
70 papers
NM_000486.6
p.R187C
c.559C>T
5 papers
NM_000486.6
p.H201Y
c.601C>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."