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

8 papers

NM_000603.5

p.T271T

c.813C>T

Surrounding Variants

1 paper

NM_000603.5

p.T271S

c.812C>G

1 paper

NM_000603.5

p.E272K

c.814G>A

1 paper

NM_000603.5

p.T271S

c.811A>T

1 paper

NM_000603.5

p.E272D

c.816G>C

1 paper

NM_000603.5

p.E272_L273Splc

c.816+1G>A

1 paper

NM_000603.5

p.I270insFs

c.810dupC

1 paper

NM_000603.5

p.R262R

c.786G>C

4 papers

NM_000603.5

p.D258D

c.774T>C

1 paper

NM_000603.5

p.Q256*

c.766C>T

1 paper

NM_000603.5

p.R255R

c.765G>T

1 paper

NM_000603.5

p.R255Q

c.764G>A

1 paper

NM_000603.5

p.R255R

c.763C>A