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

4 papers

NM_000746.6

p.P348P

c.1044C>T

Surrounding Variants

1 paper

NM_000746.6

p.A356T

c.1066G>A

1 paper

NM_000746.6

p.W338*

c.1014G>A

1 paper

NM_000746.6

p.Q361E

c.1081C>G

1 paper

NM_000746.6

p.S372R

c.1114A>C

1 paper

NM_000746.6

p.S372R

c.1116C>A

1 paper

NM_000746.6

p.S372R

c.1116C>G

1 paper

NM_000746.6

p.S372S

c.1116C>T

1 paper

NM_000746.6

p.V374M

c.1120G>A

1 paper

NM_000746.6

p.A375T

c.1123G>A

1 paper

NM_000746.6

p.A375V

c.1124C>T

1 paper

NM_000746.6

p.N381N

c.1143C>T

1 paper

NM_000746.6

p.R390H

c.1169G>A