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.L8L

c.24G>A

Surrounding Variants

1 paper

NM_005199.5

p.L9delFs

c.25_26delCT

1 paper

NM_005199.5

p.L9P

c.26T>C

1 paper

NM_005199.5

p.P7A

c.19C>G

1 paper

NM_005199.5

p.P7_L8del1

c.20_22delCGC

5 papers

NM_005199.5

p.Q5*

c.13C>T

1 paper

NM_005199.5

p.M1I

c.3G>A

1 paper

NM_005199.5

p.M1I

c.3G>C

1 paper

NM_005199.5

p.M1I

c.3G>T

1 paper

NM_005199.5

p.V16insFs

c.46_47insC

1 paper

NM_005199.5

p.M1R

c.2T>G

3 papers

NM_005199.5

p.G19R

c.55G>A

2 papers

NM_005199.5

p.G19R

c.55G>C