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.A187G

c.560C>G

Surrounding Variants

1 paper

NM_000744.7

p.K188M

c.563A>T

6 papers

NM_000744.7

p.D185D

c.555C>T

1 paper

NM_000744.7

p.D185N

c.553G>A

3 papers

NM_000744.7

p.D190D

c.570C>T

1 paper

NM_000744.7

p.F179Y

c.536T>A

1 paper

NM_000744.7

p.H195Q

c.585C>G

1 paper

NM_000744.7

p.H195_S196insFs

c.585_586insT

1 paper

NM_000744.7

p.H195Q

c.585C>A

1 paper

NM_000744.7

p.R197H

c.590G>A

4 papers

NM_000744.7

p.M177L

c.529A>T

1 paper

NM_000744.7

p.D171_Q172del2

c.511_515del6

1 paper

NM_000744.7

p.Q172delFs

c.514delG