Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.Y37F

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.Y37F
c.110A>T
Surrounding Variants
2 papers
NM_198098.4
p.P38S
c.112C>T
5 papers
NM_198098.4
p.P38L
c.113C>T
1 paper
NM_198098.4
p.V39fs
c.115_116fs
1 paper
NM_198098.4
p.K36_Q43insFs
c.107_128dup22
1 paper
NM_198098.4
p.L33L
c.97C>T
1 paper
NM_198098.4
p.Q43P
c.128A>C
1 paper
NM_198098.4
p.S31_A32insFs
c.93_94insT
1 paper
NM_198098.4
p.T44P
c.130A>C
2 papers
NM_198098.4
p.G30S
c.88G>A
1 paper
NM_198098.4
p.I29I
c.87C>T
3 papers
NM_198098.4
p.A45T
c.133G>A
16 papers
NM_198098.4
p.A45V
c.134C>T
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