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.L33insFs

c.98dupT

Surrounding Variants

1 paper

NM_005199.5

p.Q35insFs

c.104dupA

3 papers

NM_005199.5

p.R28C

c.82C>T

3 papers

NM_005199.5

p.P39insFs

c.117dupC

1 paper

NM_005199.5

p.P39fs

c.115_116fs

1 paper

NM_005199.5

p.E26insFs

c.78dupG

1 paper

NM_005199.5

p.N40fs

c.118_119fs

1 paper

NM_005199.5

p.Q25_E26del1

c.74_76delAGG

1 paper

NM_005199.5

p.Q25_E26del2

c.73_77del6

1 paper

NM_005199.5

p.L41_R42insFs

c.123_124insG

1 paper

NM_005199.5

p.N24insFs

c.70_71insG

3 papers

NM_005199.5

p.R42Q

c.125G>A

1 paper

NM_005199.5

p.Q21*

c.61C>T