Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.L104F

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.L104F
c.310C>T
Surrounding Variants
3 papers
NM_000486.6
p.I107N
c.320T>A
1 paper
NM_000486.6
p.I107T
c.320T>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
12 papers
NM_000486.6
p.G100*
c.298G>T
7 papers
NM_000486.6
p.T108M
c.323C>T
1 paper
NM_000486.6
p.G100delFs
c.299delG
1 paper
NM_000486.6
p.T108T
c.324G>A
1 paper
NM_000486.6
p.A99T
c.295G>A
1 paper
NM_000486.6
p.A99P
c.295G>C
1 paper
NM_000486.6
p.V98delins
c.293_294delinsCT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."