Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.I107T

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.I107T
c.320T>C
Surrounding Variants
3 papers
NM_000486.6
p.I107N
c.320T>A
7 papers
NM_000486.6
p.T108M
c.323C>T
1 paper
NM_000486.6
p.T108T
c.324G>A
1 paper
NM_000486.6
p.L104F
c.310C>T
4 papers
NM_000486.6
p.R113C
c.337C>T
1 paper
NM_000486.6
p.R113H
c.338G>A
1 paper
NM_000486.6
p.G114delFs
c.340delG
2 papers
NM_000486.6
p.G114R
c.340G>A
2 papers
NM_000486.6
p.G114R
c.340G>C
13 papers
NM_000486.6
p.G100V
c.299G>T
11 papers
NM_000486.6
p.G100R
c.298G>A
11 papers
NM_000486.6
p.G100R
c.298G>C
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