Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.H260fs

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.H260fs
c.778_779fs
Surrounding Variants
2 papers
NM_000486.6
p.H260insFs
c.779dupA
1 paper
NM_000486.6
p.H260fs
c.778_779fs
7 papers
NM_000486.6
p.H260_S261insFs
c.780_781insA
1 paper
NM_000486.6
p.L259fs
c.775_776fs
1 paper
NM_000486.6
p.L259fs
c.775_776fs
20 papers
NM_000486.6
p.S261A
c.781T>G
2 papers
NM_000486.6
p.S261*
c.782C>A
1 paper
NM_000486.6
p.S261L
c.782C>T
2 papers
NM_000486.6
p.L259delFs
c.775delC
5 papers
NM_000486.6
p.E258A
c.773A>C
2 papers
NM_000486.6
p.P262A
c.784C>G
71 papers
NM_000486.6
p.E258K
c.772G>A
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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."