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

7 papers

NM_000744.7

p.R336C

c.1006C>T

Surrounding Variants

11 papers

NM_000744.7

p.R336H

c.1007G>A

1 paper

NM_000744.7

p.P335S

c.1003C>T

1 paper

NM_000744.7

p.R336_T337delFs

c.1008_1009delTG

1 paper

NM_000744.7

p.S334L

c.1001C>T

1 paper

NM_000744.7

p.H338D

c.1012C>G

3 papers

NM_000744.7

p.R333H

c.998G>A

1 paper

NM_000744.7

p.R333C

c.997C>T

1 paper

NM_000744.7

p.H331Y

c.991C>T

2 papers

NM_000744.7

p.V330M

c.988G>A

1 paper

NM_000744.7

p.P341delFs

c.1022delG

2 papers

NM_000744.7

p.V344L

c.1030G>T

2 papers

NM_000744.7

p.V344L

c.1030G>C