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

1–12 of 300 variants

56 papers

NM_000744.7

p.S284L

c.851C>T

33 papers

NM_000744.7

p.S280F

c.839C>T

13 papers

NM_000744.7

p.T515T

c.1545C>T

11 papers

NM_000744.7

p.V287L

c.859G>C

11 papers

NM_000744.7

p.R336H

c.1007G>A

10 papers

NM_000744.7

p.T293I

c.878C>T

9 papers

NM_000744.7

p.P451L

c.1352C>T

8 papers

NM_000744.7

p.R487Q

c.1460G>A

7 papers

NM_000744.7

p.R336C

c.1006C>T

6 papers

NM_000744.7

p.D185D

c.555C>T

6 papers

NM_000744.7

p.S543S

c.1629C>T

5 papers

NM_000744.7

p.V327M

c.979G>A