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.A656T

c.1966G>A

Surrounding Variants

1 paper

NM_000603.5

p.R655Q

c.1964G>A

1 paper

NM_000603.5

p.R655delFs

c.1965delG

1 paper

NM_000603.5

p.Y657D

c.1969T>G

2 papers

NM_000603.5

p.Y657F

c.1970A>T

1 paper

NM_000603.5

p.P658T

c.1972C>A

1 paper

NM_000603.5

p.S654P

c.1960T>C

1 paper

NM_000603.5

p.P658L

c.1973C>T

3 papers

NM_000603.5

p.G653D

c.1958G>A

1 paper

NM_000603.5

p.G651W

c.1951G>T

1 paper

NM_000603.5

p.F650L

c.1950C>G

1 paper

NM_000603.5

p.C648R

c.1942T>C

1 paper

NM_000603.5

p.R665H

c.1994G>A