Varaico: Literature-Extracted Genetic Variants

NOS3

1,233 papers

RefSeq Summary

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized fr...

Pfam Domains

NO_synthaseaa 119–481UCSCNitric oxide synthase, oxygenase domain

Flavodoxin_1aa 522–698UCSCFlavodoxin

FAD_binding_1aa 751–979UCSCFAD binding domain

NAD_binding_1aa 1011–1125UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

nitric oxide synthase 3

HGNC Alias Symbols

ECNOS; eNOS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000603.5

p.V827M

c.2479G>A

Surrounding Variants

1 paper

NM_000603.5

p.P826A

c.2476C>G

1 paper

NM_000603.5

p.A822V

c.2465C>T

2 papers

NM_000603.5

p.P820P

c.2460G>A

1 paper

NM_000603.5

p.E818*

c.2452G>T

1 paper

NM_000603.5

p.P837T

c.2509C>A

1 paper

NM_000603.5

p.G838Splc

c.2512+7G>A

1 paper

NM_000603.5

p.A812_L813insFs

c.2436_2437insT

1 paper

NM_000603.5

p.A812V

c.2435C>T

1 paper

NM_000603.5

p.P807P

c.2421C>T

1 paper

NM_000603.5

p.R806Q

c.2417G>A

1 paper

NM_000603.5

p.V801V

c.2403C>A

1 paper

NM_000603.5

p.G800A

c.2399G>C