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

4 papers

NM_000625.4

p.K696R

c.2087A>G

Surrounding Variants

1 paper

NM_000625.4

p.P695L

c.2084C>T

2 papers

NM_000625.4

p.I694T

c.2081T>C

1 paper

NM_000625.4

p.N701S

c.2102A>G

1 paper

NM_000625.4

p.R687*

c.2059C>T

1 paper

NM_000625.4

p.D685V

c.2054A>T

1 paper

NM_000625.4

p.V712M

c.2134G>A

2 papers

NM_000625.4

p.A679S

c.2035G>T

1 paper

NM_000625.4

p.A679T

c.2035G>A

1 paper

NM_000625.4

p.Q716L

c.2147A>T

1 paper

NM_000625.4

p.L720F

c.2158C>T

1 paper

NM_000625.4

p.K678_A679Splc

c.2034+273T>G

1 paper

NM_000625.4

p.A723Splc

c.2168-19G>A