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

56 papers

NM_000744.7

p.S284L

c.851C>T

Surrounding Variants

3 papers

NM_000744.7

p.S284W

c.851C>G

1 paper

NM_000744.7

p.S284insFs

c.850_851insGT

1 paper

NM_000744.7

p.L283P

c.848T>C

2 papers

NM_000744.7

p.L283insFs

c.847_848insGT

1 paper

NM_000744.7

p.T286A

c.856A>G

2 papers

NM_000744.7

p.T286I

c.857C>T

11 papers

NM_000744.7

p.V287L

c.859G>C

2 papers

NM_000744.7

p.V287I

c.859G>A

1 paper

NM_000744.7

p.V281M

c.841G>A

1 paper

NM_000744.7

p.F288L

c.862T>C

33 papers

NM_000744.7

p.S280F

c.839C>T

1 paper

NM_000744.7

p.F288L

c.864C>G