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

13 papers

NM_000744.7

p.T515T

c.1545C>T

Surrounding Variants

3 papers

NM_000744.7

p.S517L

c.1550C>T

1 paper

NM_000744.7

p.S512_R513delFs

c.1536_1537delGA

1 paper

NM_000744.7

p.R513fs

c.1537_1538fs

1 paper

NM_000744.7

p.A511S

c.1531G>T

1 paper

NM_000744.7

p.P522R

c.1565C>G

1 paper

NM_000744.7

p.P523S

c.1567C>T

1 paper

NM_000744.7

p.A507V

c.1520C>T

1 paper

NM_000744.7

p.A506ins1

c.1517_1518insGGC

1 paper

NM_000744.7

p.A499T

c.1495G>A

1 paper

NM_000744.7

p.C533S

c.1597T>A

1 paper

NM_000744.7

p.C533S

c.1598G>C

1 paper

NM_000744.7

p.K534insFs

c.1601_1602ins5