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.L4L

c.12G>A

Surrounding Variants

1 paper

NM_000603.5

p.L4L

c.10T>C

1 paper

NM_000603.5

p.N3K

c.9C>A

1 paper

NM_000603.5

p.K5K

c.15G>A

1 paper

NM_000603.5

p.S6G

c.16A>G

3 papers

NM_000603.5

p.G2A

c.5G>C

1 paper

NM_000603.5

p.G2V

c.5G>T

1 paper

NM_000603.5

p.G2S

c.4G>A

1 paper

NM_000603.5

p.V7A

c.20T>C

1 paper

NM_000603.5

p.M1_G2insFs

c.3_4insA

1 paper

NM_000603.5

p.M1_G2insFs

c.3_4insT

9 papers

NM_000603.5

p.M1I

c.3G>T

1 paper

NM_000603.5

p.A8T

c.22G>A