Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E16fs

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.E16fs
c.46_47fs
Surrounding Variants
1 paper
NM_000486.6
p.V13V
c.39G>A
2 papers
NM_000486.6
p.A19T
c.55G>A
6 papers
NM_000486.6
p.A19V
c.56C>T
1 paper
NM_000486.6
p.A12T
c.34G>A
26 papers
NM_000486.6
p.L22V
c.64C>G
1 paper
NM_000486.6
p.L22L
c.66C>G
1 paper
NM_000486.6
p.F9_L18delFs
c.27_54del28
1 paper
NM_000486.6
p.V24I
c.70G>A
1 paper
NM_000486.6
p.V24L
c.70G>C
8 papers
NM_000486.6
p.V24A
c.71T>C
2 papers
NM_000486.6
p.I7L
c.19A>T
1 paper
NM_000486.6
p.F25L
c.73T>C
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