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.Q1329*

c.3985C>T

Surrounding Variants

1 paper

NM_000620.5

p.V1328L

c.3982G>T

1 paper

NM_000620.5

p.E1334Q

c.4000G>C

1 paper

NM_000620.5

p.R1342Q

c.4025G>A

3 papers

NM_000620.5

p.V1353I

c.4057G>A

1 paper

NM_000620.5

p.D1356E

c.4068C>G

1 paper

NM_000620.5

p.D1356E

c.4068C>A

2 papers

NM_000620.5

p.R1369C

c.4105C>T

1 paper

NM_000620.5

p.N1393Y

c.4177A>T

1 paper

NM_000620.5

p.F1400L

c.4198T>C

1 paper

NM_000620.5

p.F1400L

c.4200T>G

1 paper

NM_000620.5

p.F1400L

c.4200T>A

1 paper

NM_000620.5

p.G1401E

c.4202G>A