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.V41M

c.121G>A

Surrounding Variants

1 paper

NM_000620.5

p.P39R

c.116C>G

1 paper

NM_000620.5

p.P39T

c.115C>A

1 paper

NM_000620.5

p.K38N

c.114G>T

1 paper

NM_000620.5

p.K38R

c.113A>G

1 paper

NM_000620.5

p.S44A

c.130T>G

1 paper

NM_000620.5

p.V36I

c.106G>A

1 paper

NM_000620.5

p.R35W

c.103C>T

1 paper

NM_000620.5

p.R48C

c.142C>T

1 paper

NM_000620.5

p.G49E

c.146G>A

1 paper

NM_000620.5

p.G50A

c.149G>C

5 papers

NM_000620.5

p.L31L

c.93G>A

1 paper

NM_000620.5

p.L31P

c.92T>C