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.P494H

c.1481C>A

Surrounding Variants

3 papers

NM_000744.7

p.R495Q

c.1484G>A

1 paper

NM_000744.7

p.A499T

c.1495G>A

8 papers

NM_000744.7

p.R487Q

c.1460G>A

1 paper

NM_000744.7

p.R487W

c.1459C>T

1 paper

NM_000744.7

p.R485L

c.1454G>T

1 paper

NM_000744.7

p.R485Q

c.1454G>A

1 paper

NM_000744.7

p.R483L

c.1448G>T

2 papers

NM_000744.7

p.R483Q

c.1448G>A

1 paper

NM_000744.7

p.A506ins1

c.1517_1518insGGC

1 paper

NM_000744.7

p.A507V

c.1520C>T

1 paper

NM_000744.7

p.G481S

c.1441G>A

1 paper

NM_000744.7

p.V478L

c.1432G>T