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p(HGNC:CHRNA4, var("p.Ser248Thr"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
CHRNA4
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 1

Nicotinic Acetylcholine Receptors and Nicotinic Cholinergic Mechanisms of the Central Nervous System v1.0.0

In-Edges 1

p(HGNC:CHRNA4) hasVariant p(HGNC:CHRNA4, var("p.Ser248Thr")) View Subject | View Object

Appears in Networks:

Out-Edges 1

p(HGNC:CHRNA4, var("p.Ser248Thr")) increases path(MESH:Epilepsy) View Subject | View Object

A mutation in the gene encoding the α4 nAChR subunit (CHRNA4) causes a genetically transmissible form of epilepsy, which was the first discovery of a human disease associated with a neuronal nAChR (165, 166). The mutation has been identified as a single base substitution converting a serine into threonine (S248F) in the TM2 domain of the α4 subunit (165). PubMed:17009926

Appears in Networks:
Annotations
MeSH
Epilepsy

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.