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.T669K

c.2006C>A

Surrounding Variants

1 paper

NM_000603.5

p.V667E

c.2000T>A

9 papers

NM_000603.5

p.A666A

c.1998C>G

1 paper

NM_000603.5

p.A666S

c.1996G>T

1 paper

NM_000603.5

p.E673delFs

c.2019delA

1 paper

NM_000603.5

p.R665H

c.1994G>A

1 paper

NM_000603.5

p.G676V

c.2027G>T

1 paper

NM_000603.5

p.E677E

c.2031G>A

1 paper

NM_000603.5

p.P658L

c.1973C>T

1 paper

NM_000603.5

p.P658T

c.1972C>A

2 papers

NM_000603.5

p.Y657F

c.1970A>T

1 paper

NM_000603.5

p.Y657D

c.1969T>G

1 paper

NM_000603.5

p.A656T

c.1966G>A