Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.G268delFs

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.G268delFs
c.803delG
Surrounding Variants
1 paper
NM_000486.6
p.R267fs
c.799_800fs
1 paper
NM_000486.6
p.R267G
c.799C>G
1 paper
NM_000486.6
p.R267fs
c.799_800fs
1 paper
NM_000486.6
p.R267delFs
c.799_800delCG
1 paper
NM_000486.6
p.G268_T269del2
c.802_806del6
1 paper
NM_000486.6
p.G268_T269insFs
c.804_805insG
1 paper
NM_000486.6
p.T269A
c.805A>G
1 paper
NM_000486.6
p.T269S
c.805A>T
1 paper
NM_000486.6
p.T269S
c.806C>G
1 paper
NM_000486.6
p.S264G
c.790A>G
1 paper
NM_000486.6
p.K270delFs
c.809_810delAG
10 papers
NM_000486.6
p.K270R
c.809A>G
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."