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.S739A

c.2215T>G

Surrounding Variants

1 paper

NM_000625.4

p.R736K

c.2207G>A

3 papers

NM_000625.4

p.T747A

c.2239A>G

1 paper

NM_000625.4

p.S748A

c.2242T>G

1 paper

NM_000625.4

p.K730E

c.2188A>G

1 paper

NM_000625.4

p.S748F

c.2243C>T

2 papers

NM_000625.4

p.H728Q

c.2184T>G

2 papers

NM_000625.4

p.H728Q

c.2184T>A

1 paper

NM_000625.4

p.A723Splc

c.2168-19G>A

1 paper

NM_000625.4

p.R750C

c.2248C>T

1 paper

NM_000625.4

p.T752A

c.2254A>G

1 paper

NM_000625.4

p.L754L

c.2262G>A

1 paper

NM_000625.4

p.S758F

c.2273C>T