Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.D48A

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.D48A
c.143A>C
Surrounding Variants
1 paper
NM_198098.4
p.D48N
c.142G>A
5 papers
NM_198098.4
p.Q47R
c.140A>G
2 papers
NM_198098.4
p.V50M
c.148G>A
1 paper
NM_198098.4
p.V50A
c.149T>C
16 papers
NM_198098.4
p.A45V
c.134C>T
3 papers
NM_198098.4
p.A45T
c.133G>A
3 papers
NM_198098.4
p.V52L
c.154G>C
3 papers
NM_198098.4
p.V52L
c.154G>T
1 paper
NM_198098.4
p.T44P
c.130A>C
3 papers
NM_198098.4
p.S53T
c.157T>A
1 paper
NM_198098.4
p.Q43P
c.128A>C
1 paper
NM_198098.4
p.F56S
c.167T>C
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