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

1 paper

NM_000603.5

p.A86A

c.258C>A

Surrounding Variants

1 paper

NM_000603.5

p.Q87R

c.260A>G

1 paper

NM_000603.5

p.Q87H

c.261G>C

1 paper

NM_000603.5

p.A88V

c.263C>T

1 paper

NM_000603.5

p.L84H

c.251T>A

1 paper

NM_000603.5

p.Y81F

c.242A>T

1 paper

NM_000603.5

p.I79N

c.236T>A

1 paper

NM_000603.5

p.G77G

c.231G>A

1 paper

NM_000603.5

p.E75Q

c.223G>C

1 paper

NM_000603.5

p.N73S

c.218A>G

1 paper

NM_000603.5

p.N73Y

c.217A>T

1 paper

NM_000603.5

p.V71G

c.212T>G

1 paper

NM_000603.5

p.R70S

c.208C>A