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.P554L

c.1661C>T

Surrounding Variants

4 papers

NM_000744.7

p.A553A

c.1659G>A

1 paper

NM_000744.7

p.P556L

c.1667C>T

1 paper

NM_000744.7

p.K552T

c.1655A>C

1 paper

NM_000744.7

p.H557fs

c.1669_1670fs

1 paper

NM_000744.7

p.T551I

c.1652C>T

1 paper

NM_000744.7

p.H557insFs

c.1670dupA

1 paper

NM_000744.7

p.K547N

c.1641G>T

1 paper

NM_000744.7

p.K547N

c.1641G>C

1 paper

NM_000744.7

p.S561L

c.1682C>T

4 papers

NM_000744.7

p.T545M

c.1634C>T

1 paper

NM_000744.7

p.T545R

c.1634C>G

1 paper

NM_000744.7

p.A544S

c.1630G>T