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.K429T

c.1286A>C

Surrounding Variants

1 paper

NM_000603.5

p.M428V

c.1282A>G

13 papers

NM_000603.5

p.N433T

c.1298A>C

1 paper

NM_000603.5

p.A423T

c.1267G>A

1 paper

NM_000603.5

p.A422T

c.1264G>A

2 papers

NM_000603.5

p.H421Q

c.1263C>A

2 papers

NM_000603.5

p.H421Q

c.1263C>G

1 paper

NM_000603.5

p.R438delFs

c.1312delA

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.H420R

c.1259A>G

1 paper

NM_000603.5

p.H420Y

c.1258C>T