Varaico: Literature-Extracted Genetic Variants

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

NO_synthaseaa 355–717UCSCNitric oxide synthase, oxygenase domain

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.T130I

c.389C>T

Surrounding Variants

1 paper

NM_000620.5

p.P129S

c.385C>T

1 paper

NM_000620.5

p.A132S

c.394G>T

1 paper

NM_000620.5

p.S136S

c.408C>T

1 paper

NM_000620.5

p.H137H

c.411C>T

1 paper

NM_000620.5

p.T123A

c.367A>G

1 paper

NM_000620.5

p.P139A

c.415C>G

1 paper

NM_000620.5

p.P139T

c.415C>A

2 papers

NM_000620.5

p.R121Q

c.362G>A

2 papers

NM_000620.5

p.R121W

c.361C>T

1 paper

NM_000620.5

p.P140L

c.419C>T

1 paper

NM_000620.5

p.P140P

c.420G>A

1 paper

NM_000620.5

p.G115A

c.344G>C