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.W161*

c.483G>A

Surrounding Variants

1 paper

NM_005199.5

p.W161*

c.482G>A

2 papers

NM_005199.5

p.V154fs

c.460_461fs

11 papers

NM_005199.5

p.V154fs

c.460_461fs

23 papers

NM_005199.5

p.S153insFs

c.459dupA

3 papers

NM_005199.5

p.A149T

c.445G>A

1 paper

NM_005199.5

p.R147R

c.441T>A

1 paper

NM_005199.5

p.R147H

c.440G>A

1 paper

NM_005199.5

p.S148insFs

c.442dupT

1 paper

NM_005199.5

p.I145_R147del3

c.433_440del9

9 papers

NM_005199.5

p.P143R

c.428C>G

1 paper

NM_005199.5

p.Y139del1

c.415_417delTAC

1 paper

NM_005199.5

p.P134fs

c.400_401fs