Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.I164T

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.I164T
c.491T>C
Surrounding Variants
1 paper
NM_000486.6
p.I164I
c.492A>C
2 papers
NM_000486.6
p.G165D
c.494G>A
7 papers
NM_000486.6
p.S167T
c.499T>A
1 paper
NM_000486.6
p.S167A
c.499T>G
1 paper
NM_000486.6
p.S167C
c.500C>G
4 papers
NM_000486.6
p.S167F
c.500C>T
1 paper
NM_000486.6
p.A161T
c.481G>A
1 paper
NM_000486.6
p.S167S
c.501T>C
4 papers
NM_000486.6
p.S167_V168insFs
c.501_502insC
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."