Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E258K

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
71 papers
NM_000486.6
p.E258K
c.772G>A
Surrounding Variants
1 paper
NM_000486.6
p.E258Q
c.772G>C
5 papers
NM_000486.6
p.E258A
c.773A>C
2 papers
NM_000486.6
p.L259delFs
c.775delC
1 paper
NM_000486.6
p.V257A
c.770T>C
1 paper
NM_000486.6
p.L259fs
c.775_776fs
1 paper
NM_000486.6
p.L259fs
c.775_776fs
1 paper
NM_000486.6
p.S256*
c.767C>A
27 papers
NM_000486.6
p.S256L
c.767C>T
2 papers
NM_000486.6
p.H260insFs
c.779dupA
1 paper
NM_000486.6
p.H260fs
c.778_779fs
1 paper
NM_000486.6
p.H260fs
c.778_779fs
87 papers
NM_000486.6
p.S256A
c.766T>G
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