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.Y218Y

c.654C>T

Surrounding Variants

1 paper

NM_000744.7

p.Y218C

c.653A>G

1 paper

NM_000744.7

p.N219T

c.656A>C

3 papers

NM_000744.7

p.T217T

c.651C>T

1 paper

NM_000744.7

p.T217I

c.650C>T

1 paper

NM_000744.7

p.T217N

c.650C>A

1 paper

NM_000744.7

p.T220I

c.659C>T

1 paper

NM_000744.7

p.T220N

c.659C>A

1 paper

NM_000744.7

p.T217A

c.649A>G

1 paper

NM_000744.7

p.G216A

c.647G>C

1 paper

NM_000744.7

p.K222E

c.664A>G

1 paper

NM_000744.7

p.V215M

c.643G>A

1 paper

NM_000744.7

p.A214P

c.640G>C