Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.M1V

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
2 papers
NM_198098.4
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_198098.4
p.M1insFs
c.2dupT
1 paper
NM_198098.4
p.M1insFs
c.1_2insA
2 papers
NM_198098.4
p.M1I
c.3G>A
1 paper
NM_198098.4
p.M1I
c.3G>C
1 paper
NM_198098.4
p.M1I
c.3G>T
1 paper
NM_198098.4
p.E4E
c.12G>A
1 paper
NM_198098.4
p.K7M
c.20A>T
1 paper
NM_198098.4
p.R12W
c.34A>T
1 paper
NM_198098.4
p.A16D
c.47C>A
1 paper
NM_198098.4
p.L19V
c.55C>G
1 paper
NM_198098.4
p.A20V
c.59C>T
2 papers
NM_198098.4
p.T21T
c.63G>A
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