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

1–12 of 105 variants

5 papers

NM_000746.6

p.M1insFs

c.3dupG

5 papers

NM_000746.6

p.T230T

c.690G>A

4 papers

NM_000746.6

p.M1insFs

c.2dupT

4 papers

NM_000746.6

p.P218P

c.654C>T

4 papers

NM_000746.6

p.P348P

c.1044C>T

4 papers

NM_000746.6

p.E452K

c.1354G>A

4 papers

NM_000746.6

p.S489L

c.1466C>T

3 papers

NM_000746.6

p.M1insFs

c.1dupA

3 papers

NM_000746.6

p.S4ins1

c.11_12insGTT

3 papers

NM_000746.6

p.V8insFs

c.23dupT

3 papers

NM_000746.6

p.Y233C

c.698A>G

3 papers

NM_000746.6

p.G423S

c.1267G>A