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

1–12 of 292 variants

30 papers

NM_000620.5

p.H92H

c.276C>T

13 papers

NM_000620.5

p.L28L

c.84G>A

5 papers

NM_000620.5

p.L31L

c.93G>A

5 papers

NM_000620.5

p.F262F

c.786C>T

5 papers

NM_000620.5

p.D394A

c.1181A>C

3 papers

NM_000620.5

p.S771L

c.2312C>T

3 papers

NM_000620.5

p.V1353I

c.4057G>A

2 papers

NM_000620.5

p.M1V

c.1A>G

2 papers

NM_000620.5

p.M5I

c.15G>A

2 papers

NM_000620.5

p.R19C

c.55C>T

2 papers

NM_000620.5

p.H92Y

c.274C>T

2 papers

NM_000620.5

p.T109A

c.325A>G