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

2 papers

NM_000744.7

p.C409C

c.1227T>C

Surrounding Variants

2 papers

NM_000744.7

p.V410I

c.1228G>A

1 paper

NM_000744.7

p.P411L

c.1232C>T

1 paper

NM_000744.7

p.P415S

c.1243C>T

2 papers

NM_000744.7

p.P403P

c.1209G>T

1 paper

NM_000744.7

p.P403S

c.1207C>T

1 paper

NM_000744.7

p.C422Y

c.1265G>A

2 papers

NM_000744.7

p.T395M

c.1184C>T

1 paper

NM_000744.7

p.D427N

c.1279G>A

1 paper

NM_000744.7

p.G390E

c.1169G>A

1 paper

NM_000744.7

p.P430S

c.1288C>T

1 paper

NM_000744.7

p.P388L

c.1163C>T

2 papers

NM_000744.7

p.E387G

c.1160A>G