Varaico: Literature-Extracted Genetic Variants

Gene:NOS1
Variant:p.G219W

NOS1

434 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic media...

Pfam Domains

PDZaa 17–96UCSCPDZ domain
PDZaa 17–96UCSCPDZ domain
NO_synthaseaa 355–717UCSCNitric oxide synthase, oxygenase domain
NO_synthaseaa 355–717UCSCNitric oxide synthase, oxygenase domain
Flavodoxin_1aa 762–935UCSCFlavodoxin
Flavodoxin_1aa 762–935UCSCFlavodoxin

Gene Aliases

HGNC Name

nitric oxide synthase 1

HGNC Alias Symbol

nNOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000620.5
p.G219W
c.655G>T
Surrounding Variants
1 paper
NM_000620.5
p.S220G
c.658A>G
1 paper
NM_000620.5
p.G222W
c.664G>T
1 paper
NM_000620.5
p.V223A
c.668T>C
1 paper
NM_000620.5
p.G226R
c.676G>C
1 paper
NM_000620.5
p.A227E
c.680C>A
1 paper
NM_000620.5
p.K207insFs
c.620dupA
1 paper
NM_000620.5
p.A231T
c.691G>A
1 paper
NM_000620.5
p.L205P
c.614T>C
1 paper
NM_000620.5
p.M233I
c.699G>T
1 paper
NM_000620.5
p.M233I
c.699G>C
1 paper
NM_000620.5
p.M233I
c.699G>A
1 paper
NM_000620.5
p.G237R
c.709G>A
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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."