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.E387A

c.1160A>C

Surrounding Variants

1 paper

NM_000620.5

p.E388A

c.1163A>C

1 paper

NM_000620.5

p.L386insFs

c.1156_1157insT

1 paper

NM_000620.5

p.R385K

c.1154G>A

5 papers

NM_000620.5

p.D394A

c.1181A>C

1 paper

NM_000620.5

p.S397N

c.1190G>A

1 paper

NM_000620.5

p.I407L

c.1219A>C

1 paper

NM_000620.5

p.R415Q

c.1244G>A

1 paper

NM_000620.5

p.S418S

c.1254G>A

1 paper

NM_000620.5

p.R419H

c.1256G>A

1 paper

NM_000620.5

p.K428R

c.1283A>G

1 paper

NM_000620.5

p.R376Splc

c.1128-154T>A

1 paper

NM_000620.5

p.Q430_V431Splc

c.1290+296T>C