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.D966Splc

c.2897-2A>G

Surrounding Variants

6 papers

NM_000603.5

p.Q982L

c.2945A>T

2 papers

NM_000603.5

p.G986R

c.2956G>A

2 papers

NM_000603.5

p.G986R

c.2956G>C

2 papers

NM_000603.5

p.C991S

c.2971T>A

2 papers

NM_000603.5

p.C991S

c.2972G>C

1 paper

NM_000603.5

p.G995Splc

c.2984+4A>G

1 paper

NM_000603.5

p.A958G

c.2873C>G

1 paper

NM_000603.5

p.H954Q

c.2862C>A

1 paper

NM_000603.5

p.H954Q

c.2862C>G

1 paper

NM_000603.5

p.S944*

c.2831C>A

1 paper

NM_000603.5

p.S944L

c.2831C>T

2 papers

NM_000603.5

p.S941A

c.2821T>G