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.L84H

c.251T>A

Surrounding Variants

1 paper

NM_000620.5

p.R85K

c.254G>A

1 paper

NM_000620.5

p.G86R

c.256G>C

1 paper

NM_000620.5

p.G86G

c.258C>T

1 paper

NM_000620.5

p.L75_A80insFs

c.224_240dup17

1 paper

NM_000620.5

p.A88V

c.263C>T

1 paper

NM_000620.5

p.A80T

c.238G>A

1 paper

NM_000620.5

p.D78E

c.234C>G

1 paper

NM_000620.5

p.D78E

c.234C>A

1 paper

NM_000620.5

p.Y77H

c.229T>C

2 papers

NM_000620.5

p.H92Y

c.274C>T

1 paper

NM_000620.5

p.S76T

c.227G>C

30 papers

NM_000620.5

p.H92H

c.276C>T