Varaico: Literature-Extracted Genetic Variants

CHRNA7

133 papers

RefSeq Summary

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamer...

Pfam Domains

Neur_chan_LBDaa 1–49UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_LBDaa 26–230UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 56–306UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 237–487UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 7 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 7; cholinergic receptor, nicotinic, alpha 7 (neuronal); cholinergic receptor, nicotinic alpha 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000746.6

p.R2insFs

c.4dupC

Surrounding Variants

1 paper

NM_000746.6

p.M1I

c.3G>A

1 paper

NM_000746.6

p.R2insFs

c.5dupG

5 papers

NM_000746.6

p.M1insFs

c.3dupG

4 papers

NM_000746.6

p.M1insFs

c.2dupT

1 paper

NM_000746.6

p.M1_R2insFs

c.2_5dup4

1 paper

NM_000746.6

p.M1V

c.1A>G

1 paper

NM_000746.6

p.R2H

c.5G>A

3 papers

NM_000746.6

p.M1insFs

c.1dupA

2 papers

NM_000746.6

p.S4insFs

c.11dupC

1 paper

NM_000746.6

p.S4insFs

c.12dupG

3 papers

NM_000746.6

p.S4ins1

c.11_12insGTT

1 paper

NM_000746.6

p.G6insFs

c.16dupG