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.E361D

c.1083G>T

Surrounding Variants

1 paper

NM_000603.5

p.E361D

c.1083G>C

5 papers

NM_000603.5

p.E361G

c.1082A>G

1 paper

NM_000603.5

p.E361Q

c.1081G>C

1 paper

NM_000603.5

p.T360S

c.1079C>G

1 paper

NM_000603.5

p.G363C

c.1087G>T

1 paper

NM_000603.5

p.T360A

c.1078A>G

1 paper

NM_000603.5

p.T360S

c.1078A>T

1 paper

NM_000603.5

p.T364M

c.1091C>T

1 paper

NM_000603.5

p.T364T

c.1092G>A

3 papers

NM_000603.5

p.Y357F

c.1070A>T

1 paper

NM_000603.5

p.N366N

c.1098C>T

2 papers

NM_000603.5

p.G355C

c.1063G>T