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.V149_Q150ins0

c.445_450dup6

Surrounding Variants

1 paper

NM_000744.7

p.V149L

c.445G>T

3 papers

NM_000744.7

p.R148R

c.444G>A

3 papers

NM_000744.7

p.R148W

c.442C>T

1 paper

NM_000744.7

p.P154L

c.461C>T

1 paper

NM_000744.7

p.G147V

c.440G>T

1 paper

NM_000744.7

p.H142_I156delFs

c.426_466del41

1 paper

NM_000744.7

p.F144fs

c.430_431fs

1 paper

NM_000744.7

p.C161C

c.483C>T

1 paper

NM_000744.7

p.K140R

c.419A>G

2 papers

NM_000744.7

p.H137N

c.409C>A

2 papers

NM_000744.7

p.A134T

c.400G>A

1 paper

NM_000744.7

p.P169S

c.505C>T