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.G300A

c.899G>C

Surrounding Variants

1 paper

NM_000625.4

p.R301H

c.902G>A

110 papers

NM_000625.4

p.K298N

c.894G>T

1 paper

NM_000625.4

p.K298N

c.894G>C

3 papers

NM_000625.4

p.P297S

c.889C>T

1 paper

NM_000625.4

p.G294V

c.881G>T

1 paper

NM_000625.4

p.D292N

c.874G>A

1 paper

NM_000625.4

p.L309_Q310del1

c.926_928delGCA

1 paper

NM_000625.4

p.L289delFs

c.867delC

3 papers

NM_000625.4

p.R314C

c.940C>T

1 paper

NM_000625.4

p.R314H

c.941G>A

5 papers

NM_000625.4

p.L318L

c.954C>G

1 paper

NM_000625.4

p.E320K

c.958G>A