Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.G171S

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.G171S
c.511G>A
Surrounding Variants
1 paper
NM_000486.6
p.H172L
c.515A>T
1 paper
NM_000486.6
p.A169V
c.506C>T
1 paper
NM_000486.6
p.L173R
c.518T>G
22 papers
NM_000486.6
p.V168M
c.502G>A
2 papers
NM_000486.6
p.V168insFs
c.502_503insC
4 papers
NM_000486.6
p.V168fs
c.502_503fs
1 paper
NM_000486.6
p.S167S
c.501T>C
4 papers
NM_000486.6
p.S167_V168insFs
c.501_502insC
1 paper
NM_000486.6
p.S167C
c.500C>G
4 papers
NM_000486.6
p.S167F
c.500C>T
24 papers
NM_000486.6
p.G175R
c.523G>A
24 papers
NM_000486.6
p.G175R
c.523G>C
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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."