Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.Q137P

AQP1

198 papers

RefSeq Summary

This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradie...

Pfam Domains

MIPaa 4–227UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 1

HGNC Previous Symbol

CO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198098.4
p.Q137P
c.410A>C
Surrounding Variants
1 paper
NM_198098.4
p.G138D
c.413G>A
1 paper
NM_198098.4
p.S135A
c.403T>G
1 paper
NM_198098.4
p.N134S
c.401A>G
1 paper
NM_198098.4
p.I141M
c.423C>G
2 papers
NM_198098.4
p.V133M
c.397G>A
1 paper
NM_198098.4
p.G132G
c.396T>C
1 paper
NM_198098.4
p.E142A
c.425A>C
1 paper
NM_198098.4
p.G132C
c.394G>T
1 paper
NM_198098.4
p.I143T
c.428T>C
1 paper
NM_198098.4
p.T146P
c.436A>C
1 paper
NM_198098.4
p.T146A
c.436A>G
1 paper
NM_198098.4
p.L147F
c.439C>T
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