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.P353A

c.1057C>G

Surrounding Variants

1 paper

NM_000744.7

p.V352M

c.1054G>A

5 papers

NM_000744.7

p.R354C

c.1060C>T

1 paper

NM_000744.7

p.L356F

c.1066C>T

1 paper

NM_000744.7

p.L349L

c.1045C>T

2 papers

NM_000744.7

p.R360Q

c.1079G>A

1 paper

NM_000744.7

p.R345H

c.1034G>A

4 papers

NM_000744.7

p.R345C

c.1033C>T

1 paper

NM_000744.7

p.P361L

c.1082C>T

2 papers

NM_000744.7

p.V344L

c.1030G>T

2 papers

NM_000744.7

p.V344L

c.1030G>C

2 papers

NM_000744.7

p.V363M

c.1087G>A

1 paper

NM_000744.7

p.S362delFs

c.1086delG