Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.N184D

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.N184D
c.550A>G
Surrounding Variants
4 papers
NM_000486.6
p.N184H
c.550A>C
1 paper
NM_000486.6
p.N184T
c.551A>C
1 paper
NM_000486.6
p.M183T
c.548T>C
16 papers
NM_000486.6
p.P185A
c.553C>G
1 paper
NM_000486.6
p.P185R
c.554C>G
1 paper
NM_000486.6
p.P185_A186insFs
c.555_556insA
22 papers
NM_000486.6
p.C181W
c.543C>G
1 paper
NM_000486.6
p.C181S
c.542G>C
70 papers
NM_000486.6
p.R187C
c.559C>T
1 paper
NM_000486.6
p.C181S
c.541T>A
8 papers
NM_000486.6
p.R187H
c.560G>A
1 paper
NM_000486.6
p.G180D
c.539G>A
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