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.L265fs

c.793_794fs

Surrounding Variants

4 papers

NM_005199.5

p.L265R

c.794T>G

1 paper

NM_005199.5

p.P266_A267Fs

c.797_801delinsGCTFs

1 paper

NM_005199.5

p.H263insFs

c.788_789insC

1 paper

NM_005199.5

p.A269Splc

c.805+1G>A

3 papers

NM_005199.5

p.V253fs

c.757_758fs

9 papers

NM_005199.5

p.V253fs

c.757_758fs

1 paper

NM_005199.5

p.C252fs

c.754_755fs

1 paper

NM_005199.5

p.V253delFs

c.758_759delTG

1 paper

NM_005199.5

p.P251L

c.752C>T

20 papers

NM_005199.5

p.P251_C252delFs

c.753_754delCT

2 papers

NM_005199.5

p.P251fs

c.751_752fs

1 paper

NM_005199.5

p.F243del1

c.727_729delTTC