Varaico: Literature-Extracted Genetic Variants

CHRNG

175 papers

RefSeq Summary

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal ...

Pfam Domains

Neur_chan_LBDaa 26–241UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 248–492UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic gamma subunit

HGNC Previous Symbol

ACHRG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005199.5

p.L41_R42insFs

c.123_124insG

Surrounding Variants

3 papers

NM_005199.5

p.R42Q

c.125G>A

1 paper

NM_005199.5

p.N40fs

c.118_119fs

1 paper

NM_005199.5

p.P39fs

c.115_116fs

3 papers

NM_005199.5

p.P39insFs

c.117dupC

6 papers

NM_005199.5

p.R46*

c.136C>T

1 paper

NM_005199.5

p.Q35insFs

c.104dupA

1 paper

NM_005199.5

p.S48L

c.143C>T

1 paper

NM_005199.5

p.D49del1

c.145_147delGAT

1 paper

NM_005199.5

p.L33insFs

c.98dupT

1 paper

NM_005199.5

p.N52ins0

c.154_156dupAAT

3 papers

NM_005199.5

p.R28C

c.82C>T

1 paper

NM_005199.5

p.E26insFs

c.78dupG