Varaico: Literature-Extracted Genetic Variants

NOS2

843 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. This gene encodes a nitric oxi...

Pfam Domains

NO_synthaseaa 135–497UCSCNitric oxide synthase, oxygenase domain

Flavodoxin_1aa 541–672UCSCFlavodoxin

FAD_binding_1aa 725–947UCSCFAD binding domain

NAD_binding_1aa 979–1093UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

nitric oxide synthase 2

HGNC Previous Symbol

NOS2A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000625.4

p.D98del1

c.292_293delGTC

Surrounding Variants

1 paper

NM_000625.4

p.L100V

c.298C>G

1 paper

NM_000625.4

p.Q97H

c.291A>C

1 paper

NM_000625.4

p.K103R

c.308A>G

5 papers

NM_000625.4

p.G93A

c.278G>C

1 paper

NM_000625.4

p.K105N

c.315A>T

1 paper

NM_000625.4

p.G106W

c.316G>T

1 paper

NM_000625.4

p.G106R

c.316G>C

1 paper

NM_000625.4

p.G106R

c.316G>A

1 paper

NM_000625.4

p.H84L

c.251A>T

1 paper

NM_000625.4

p.H84Y

c.250C>T

2 papers

NM_000625.4

p.R83W

c.247C>T

1 paper

NM_000625.4

p.S80T

c.238T>A