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.V317F

c.949G>T

Surrounding Variants

1 paper

NM_000744.7

p.M314T

c.941T>C

2 papers

NM_000744.7

p.T313_M314insFs

c.939_940insG

1 paper

NM_000744.7

p.I321N

c.962T>A

1 paper

NM_000744.7

p.F312L

c.936C>G

1 paper

NM_000744.7

p.T324P

c.970A>C

1 paper

NM_000744.7

p.V325F

c.973G>T

1 paper

NM_000744.7

p.G307V

c.920G>T

5 papers

NM_000744.7

p.V327M

c.979G>A

2 papers

NM_000744.7

p.V330M

c.988G>A

1 paper

NM_000744.7

p.H331Y

c.991C>T

1 paper

NM_000744.7

p.R333C

c.997C>T

2 papers

NM_000744.7

p.L301V

c.901C>G