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.R234H

c.701G>A

Surrounding Variants

1 paper

NM_000603.5

p.R234C

c.700C>T

1 paper

NM_000603.5

p.Q233Q

c.699G>A

1 paper

NM_000603.5

p.Q233L

c.698A>T

1 paper

NM_000603.5

p.C235Y

c.704G>A

1 paper

NM_000603.5

p.P232L

c.695C>T

1 paper

NM_000603.5

p.P236P

c.708T>C

1 paper

NM_000603.5

p.G237S

c.709G>A

1 paper

NM_000603.5

p.G239G

c.717A>G

42 papers

NM_000603.5

p.S226L

c.677C>T

1 paper

NM_000603.5

p.G253G

c.759C>T

1 paper

NM_000603.5

p.Y254H

c.760T>C

2 papers

NM_000603.5

p.Y254Y

c.762C>T