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.A256T

c.766G>A

Surrounding Variants

1 paper

NM_000746.6

p.S258F

c.773C>T

1 paper

NM_000746.6

p.G259G

c.777G>A

1 paper

NM_000746.6

p.L247I

c.739C>A

1 paper

NM_000746.6

p.G234S

c.700G>A

1 paper

NM_000746.6

p.G234C

c.700G>T

3 papers

NM_000746.6

p.Y233C

c.698A>G

5 papers

NM_000746.6

p.T230T

c.690G>A

1 paper

NM_000746.6

p.R228L

c.683G>T

4 papers

NM_000746.6

p.P218P

c.654C>T

1 paper

NM_000746.6

p.E211V

c.632A>T

1 paper

NM_000746.6

p.D197N

c.589G>A

1 paper

NM_000746.6

p.I191I

c.573C>T