Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.A37P

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.A37P
c.109G>C
Surrounding Variants
1 paper
NM_000486.6
p.Q36*
c.106C>T
1 paper
NM_000486.6
p.P35R
c.104C>G
1 paper
NM_000486.6
p.P35S
c.103C>T
1 paper
NM_000486.6
p.P39R
c.116C>G
1 paper
NM_000486.6
p.N33K
c.99C>A
1 paper
NM_000486.6
p.L32_N33insFs
c.96_97insT
1 paper
NM_000486.6
p.A31_L32insFs
c.93_94insT
4 papers
NM_000486.6
p.Q43delFs
c.127_128delCA
2 papers
NM_000486.6
p.Q43fs
c.127_128fs
1 paper
NM_000486.6
p.A31delFs
c.91_92delGC
6 papers
NM_000486.6
p.G29S
c.85G>A
1 paper
NM_000486.6
p.A45P
c.133G>C
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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."