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.D432N

c.1294G>A

Surrounding Variants

1 paper

NM_000746.6

p.E438G

c.1313A>G

1 paper

NM_000746.6

p.G423G

c.1269C>T

3 papers

NM_000746.6

p.G423S

c.1267G>A

1 paper

NM_000746.6

p.A444P

c.1330G>C

3 papers

NM_000746.6

p.N445N

c.1335C>T

1 paper

NM_000746.6

p.S413A

c.1237T>G

4 papers

NM_000746.6

p.E452K

c.1354G>A

1 paper

NM_000746.6

p.R409H

c.1226G>A

1 paper

NM_000746.6

p.R409C

c.1225C>T

1 paper

NM_000746.6

p.D393G

c.1178A>G

1 paper

NM_000746.6

p.R390H

c.1169G>A

1 paper

NM_000746.6

p.N381N

c.1143C>T