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.N258N

c.774C>T

Surrounding Variants

1 paper

NM_000620.5

p.D259N

c.775G>A

2 papers

NM_000620.5

p.R260Q

c.779G>A

1 paper

NM_000620.5

p.G255D

c.764G>A

1 paper

NM_000620.5

p.G255S

c.763G>A

5 papers

NM_000620.5

p.F262F

c.786C>T

1 paper

NM_000620.5

p.W266C

c.798G>C

1 paper

NM_000620.5

p.G267V

c.800G>T

1 paper

NM_000620.5

p.P278S

c.832C>T

1 paper

NM_000620.5

p.Q284_P285Splc

c.852+184T>A

1 paper

NM_000620.5

p.Q284_P285Splc

c.852+1657G>A

1 paper

NM_000620.5

p.Q284_P285Splc

c.852+1903T>C

1 paper

NM_000620.5

p.Q284_P285Splc

c.852+2061A>G