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

2 papers

NM_000620.5

p.R19C

c.55C>T

Surrounding Variants

1 paper

NM_000620.5

p.R19H

c.56G>A

1 paper

NM_000620.5

p.G7_R19delFs

c.20_56del37

1 paper

NM_000620.5

p.I16T

c.47T>C

1 paper

NM_000620.5

p.I16insFs

c.46_47insT

1 paper

NM_000620.5

p.P13P

c.39C>T

1 paper

NM_000620.5

p.K24K

c.72A>G

1 paper

NM_000620.5

p.G26E

c.77G>A

1 paper

NM_000620.5

p.G27D

c.80G>A

1 paper

NM_000620.5

p.L28L

c.82C>T

13 papers

NM_000620.5

p.L28L

c.84G>A

1 paper

NM_000620.5

p.F6delFs

c.18delG

1 paper

NM_000620.5

p.L31P

c.92T>C