Varaico: Literature-Extracted Genetic Variants

CHRNA4

326 papers

RefSeq Summary

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors c...

Pfam Domains

Neur_chan_LBDaa 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–618UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 4 subunit

HGNC Previous Symbols

EBN; EBN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000744.7

p.I248F

c.742A>T

Surrounding Variants

1 paper

NM_000744.7

p.T247S

c.740C>G

1 paper

NM_000744.7

p.L250R

c.749T>G

1 paper

NM_000744.7

p.I252I

c.756C>T

1 paper

NM_000744.7

p.P243L

c.728C>T

1 paper

NM_000744.7

p.P243S

c.727C>T

1 paper

NM_000744.7

p.C254R

c.760T>C

1 paper

NM_000744.7

p.L242L

c.724C>T

1 paper

NM_000744.7

p.A236V

c.707C>T

1 paper

NM_000744.7

p.Y235delFs

c.705delA

4 papers

NM_000744.7

p.C259ins1

c.776_777insGCT

1 paper

NM_000744.7

p.V262_L263insT

c.784_788ins3

1 paper

NM_000744.7

p.V262A

c.785T>C