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

1–12 of 537 variants

100 papers

NM_000603.5

p.D298E

c.894T>G

83 papers

NM_000603.5

p.D298E

c.894T>A

42 papers

NM_000603.5

p.S226L

c.677C>T

15 papers

NM_000603.5

p.L328L

c.984G>T

13 papers

NM_000603.5

p.N433T

c.1298A>C

12 papers

NM_000603.5

p.V827M

c.2479G>A

10 papers

NM_000603.5

p.A922G

c.2765C>G

9 papers

NM_000603.5

p.M1I

c.3G>T

9 papers

NM_000603.5

p.A666A

c.1998C>G

8 papers

NM_000603.5

p.T271T

c.813C>T

7 papers

NM_000603.5

p.G92G

c.276G>T

7 papers

NM_000603.5

p.E308K

c.922G>A