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.F203_S206delFs

c.607_616del10

Surrounding Variants

1 paper

NM_000744.7

p.S206T

c.617G>C

1 paper

NM_000744.7

p.E208*

c.622G>T

1 paper

NM_000744.7

p.E208K

c.622G>A

2 papers

NM_000744.7

p.D213D

c.639T>C

1 paper

NM_000744.7

p.A214P

c.640G>C

1 paper

NM_000744.7

p.V215M

c.643G>A

1 paper

NM_000744.7

p.R197H

c.590G>A

1 paper

NM_000744.7

p.G216A

c.647G>C

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.T217A

c.649A>G