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.E301_L302insFs

c.903_904insCT

Surrounding Variants

1 paper

NM_000603.5

p.E301fs

c.901_902fs

1 paper

NM_000603.5

p.P299fs

c.895_896fs

83 papers

NM_000603.5

p.D298E

c.894T>A

1 paper

NM_000603.5

p.D298D

c.894T>C

100 papers

NM_000603.5

p.D298E

c.894T>G

1 paper

NM_000603.5

p.D298fs

c.892_893fs

5 papers

NM_000603.5

p.L305L

c.915G>C

1 paper

NM_000603.5

p.P306T

c.916C>A

1 paper

NM_000603.5

p.P306P

c.918C>T

1 paper

NM_000603.5

p.P296T

c.886C>A

1 paper

NM_000603.5

p.P307L

c.920C>T

1 paper

NM_000603.5

p.A295V

c.884C>T