Varaico: Literature-Extracted Genetic Variants

Gene:NOS1
Variant:p.F6delFs

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.F6delFs
c.18delG
Surrounding Variants
1 paper
NM_000620.5
p.F6I
c.16T>A
1 paper
NM_000620.5
p.M5I
c.15G>T
1 paper
NM_000620.5
p.M5I
c.15G>C
2 papers
NM_000620.5
p.M5I
c.15G>A
1 paper
NM_000620.5
p.H4Y
c.10C>T
1 paper
NM_000620.5
p.M1T
c.2T>C
2 papers
NM_000620.5
p.M1V
c.1A>G
1 paper
NM_000620.5
p.P13P
c.39C>T
1 paper
NM_000620.5
p.I16insFs
c.46_47insT
1 paper
NM_000620.5
p.I16T
c.47T>C
2 papers
NM_000620.5
p.R19C
c.55C>T
1 paper
NM_000620.5
p.R19H
c.56G>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."