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.R438delFs

c.1312delA

Surrounding Variants

1 paper

NM_000603.5

p.R438insFs

c.1313dupG

2 papers

NM_000603.5

p.R438fs

c.1312_1313fs

1 paper

NM_000603.5

p.R438delFs

c.1313delG

1 paper

NM_000603.5

p.C441S

c.1321T>A

1 paper

NM_000603.5

p.C441S

c.1322G>C

13 papers

NM_000603.5

p.N433T

c.1298A>C

1 paper

NM_000603.5

p.A443E

c.1328C>A

1 paper

NM_000603.5

p.D444E

c.1332C>A

1 paper

NM_000603.5

p.D444E

c.1332C>G

1 paper

NM_000603.5

p.K429T

c.1286A>C

2 papers

NM_000603.5

p.A446V

c.1337C>T

1 paper

NM_000603.5

p.M428V

c.1282A>G