Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S256A

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
87 papers
NM_000486.6
p.S256A
c.766T>G
Surrounding Variants
1 paper
NM_000486.6
p.S256*
c.767C>A
27 papers
NM_000486.6
p.S256L
c.767C>T
1 paper
NM_000486.6
p.Q255fs
c.763_764fs
3 papers
NM_000486.6
p.Q255*
c.763C>T
1 paper
NM_000486.6
p.Q255fs
c.763_764fs
1 paper
NM_000486.6
p.V257A
c.770T>C
25 papers
NM_000486.6
p.R254Q
c.761G>A
39 papers
NM_000486.6
p.R254L
c.761G>T
1 paper
NM_000486.6
p.R254G
c.760C>G
5 papers
NM_000486.6
p.R254W
c.760C>T
3 papers
NM_000486.6
p.Q255_E258delFs
c.763_772del10
71 papers
NM_000486.6
p.E258K
c.772G>A
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."