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.S137S

c.411C>T

Surrounding Variants

1 paper

NM_000603.5

p.Y135*

c.405C>G

1 paper

NM_000603.5

p.Y135C

c.404A>G

2 papers

NM_000603.5

p.R140Splc

c.419+1G>C

1 paper

NM_000603.5

p.Y134delFs

c.400delT

1 paper

NM_000603.5

p.F130insFs

c.389_390insT

2 papers

NM_000603.5

p.D129G

c.386A>G

4 papers

NM_000603.5

p.R128Q

c.383G>A

1 paper

NM_000603.5

p.R128W

c.382C>T

1 paper

NM_000603.5

p.A127S

c.379G>T

1 paper

NM_000603.5

p.Q126Q

c.378G>A

1 paper

NM_000603.5

p.E121D

c.363G>C

1 paper

NM_000603.5

p.E121fs

c.361_362fs