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.S114F

c.341C>T

Surrounding Variants

1 paper

NM_000603.5

p.P118_P120insFs

c.352_359dup8

1 paper

NM_000603.5

p.S114fs

c.340_341fs

1 paper

NM_000603.5

p.S114_G116delFs

c.341_348del8

1 paper

NM_000603.5

p.P115_P118delFs

c.343_353del11

1 paper

NM_000603.5

p.P115fs

c.343_344fs

1 paper

NM_000603.5

p.P115P

c.345C>T

4 papers

NM_000603.5

p.R112Q

c.335G>A

1 paper

NM_000603.5

p.G111S

c.331G>A

1 paper

NM_000603.5

p.Q110H

c.330G>T

1 paper

NM_000603.5

p.Q110P

c.329A>C

1 paper

NM_000603.5

p.P118P

c.354G>C

2 papers

NM_000603.5

p.A119P

c.355G>C