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

2 papers

NM_005199.5

p.T74insFs

c.220_221insC

Surrounding Variants

1 paper

NM_005199.5

p.T74_V76del3

c.220_227del9

1 paper

NM_005199.5

p.E69Q

c.205G>C

1 paper

NM_005199.5

p.R68R

c.202C>A

10 papers

NM_005199.5

p.R68*

c.202C>T

1 paper

NM_005199.5

p.M80_Q81Splc

c.240+1G>A

1 paper

NM_005199.5

p.M80_Q81Splc

c.240+5G>A

1 paper

NM_005199.5

p.L65_N66Splc

c.196-1G>T

2 papers

NM_005199.5

p.Q81*

c.241C>T

1 paper

NM_005199.5

p.D84N

c.250G>A

1 paper

NM_005199.5

p.Y85*

c.255T>A

4 papers

NM_005199.5

p.R86C

c.256C>T

1 paper

NM_005199.5

p.R86H

c.257G>A