Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.L74P

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.L74P
c.221T>C
Surrounding Variants
1 paper
NM_001651.4
p.L74M
c.220C>A
1 paper
NM_001651.4
p.N69S
c.206A>G
1 paper
NM_001651.4
p.G65A
c.194G>C
1 paper
NM_001651.4
p.L84delFs
c.252delG
1 paper
NM_001651.4
p.S64C
c.190A>T
1 paper
NM_001651.4
p.V63M
c.187G>A
1 paper
NM_001651.4
p.A59V
c.176C>T
2 papers
NM_001651.4
p.L51P
c.152T>C
2 papers
NM_001651.4
p.L51R
c.152T>G
1 paper
NM_001651.4
p.L51V
c.151C>G
1 paper
NM_001651.4
p.G101W
c.301G>T
1 paper
NM_001651.4
p.A46V
c.137C>T
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."