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.R464fs

c.1390_1391fs

Surrounding Variants

1 paper

NM_000744.7

p.S465T

c.1393T>A

1 paper

NM_000744.7

p.S465S

c.1395C>A

1 paper

NM_000744.7

p.V468I

c.1402G>A

1 paper

NM_000744.7

p.P458L

c.1373C>T

3 papers

NM_000744.7

p.G454S

c.1360G>A

1 paper

NM_000744.7

p.P474R

c.1421C>G

1 paper

NM_000744.7

p.H453P

c.1358A>C

1 paper

NM_000744.7

p.G475G

c.1425C>T

1 paper

NM_000744.7

p.P452S

c.1354C>T

9 papers

NM_000744.7

p.P451L

c.1352C>T

1 paper

NM_000744.7

p.A477V

c.1430C>T

1 paper

NM_000744.7

p.A477G

c.1430C>G