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

1–12 of 183 variants

23 papers

NM_005199.5

p.S153insFs

c.459dupA

20 papers

NM_005199.5

p.P251_C252delFs

c.753_754delCT

11 papers

NM_005199.5

p.V154fs

c.460_461fs

11 papers

NM_005199.5

p.R239C

c.715C>T

10 papers

NM_005199.5

p.R68*

c.202C>T

9 papers

NM_005199.5

p.P143R

c.428C>G

9 papers

NM_005199.5

p.V253fs

c.757_758fs

8 papers

NM_005199.5

p.P134delFs

c.401_402delCT

6 papers

NM_005199.5

p.R46*

c.136C>T

6 papers

NM_005199.5

p.V107G

c.320T>G

6 papers

NM_005199.5

p.N117Splc

c.351-9T>C

5 papers

NM_005199.5

p.Q5*

c.13C>T