Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.A121_L122Splc

AQP5

84 papers

RefSeq Summary

Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the genera...

Pfam Domains

MIPaa 4–221UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001651.4
p.A121_L122Splc
c.364-1G>A
Surrounding Variants
1 paper
NM_001651.4
p.L122P
c.365T>C
1 paper
NM_001651.4
p.N124_N125del1
c.372_374delCAA
5 papers
NM_001651.4
p.N123D
c.367A>G
5 papers
NM_001651.4
p.N123Y
c.367A>T
1 paper
NM_001651.4
p.N123K
c.369C>A
1 paper
NM_001651.4
p.N123K
c.369C>G
1 paper
NM_001651.4
p.T127M
c.380C>T
1 paper
NM_001651.4
p.C145R
c.433T>C
1 paper
NM_001651.4
p.R153delFs
c.458delG
1 paper
NM_001651.4
p.R154C
c.460C>T
1 paper
NM_001651.4
p.P161S
c.481C>T
1 paper
NM_001651.4
p.P161Q
c.482C>A
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."