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

3 papers

NM_000603.5

p.L21L

c.63G>T

Surrounding Variants

1 paper

NM_000603.5

p.L21L

c.63G>A

1 paper

NM_000603.5

p.G24G

c.72G>T

2 papers

NM_000603.5

p.G18W

c.52G>T

2 papers

NM_000603.5

p.L25L

c.75G>A

1 paper

NM_000603.5

p.L17L

c.51G>T

3 papers

NM_000603.5

p.C26S

c.76T>A

1 paper

NM_000603.5

p.C26Y

c.77G>A

3 papers

NM_000603.5

p.C26S

c.77G>C

1 paper

NM_000603.5

p.C26C

c.78C>T

1 paper

NM_000603.5

p.G16D

c.47G>A

1 paper

NM_000603.5

p.G27S

c.79G>A

4 papers

NM_000603.5

p.G16S

c.46G>A