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

9 papers

NM_000744.7

p.P451L

c.1352C>T

Surrounding Variants

1 paper

NM_000744.7

p.P452S

c.1354C>T

2 papers

NM_000744.7

p.R450H

c.1349G>A

1 paper

NM_000744.7

p.C449Y

c.1346G>A

1 paper

NM_000744.7

p.H453P

c.1358A>C

3 papers

NM_000744.7

p.G454S

c.1360G>A

2 papers

NM_000744.7

p.P448S

c.1342C>T

1 paper

NM_000744.7

p.G447E

c.1340G>A

1 paper

NM_000744.7

p.P446L

c.1337C>T

2 papers

NM_000744.7

p.S445L

c.1334C>T

1 paper

NM_000744.7

p.P458L

c.1373C>T

1 paper

NM_000744.7

p.R464fs

c.1390_1391fs

1 paper

NM_000744.7

p.E438Q

c.1312G>C