Varaico: Literature-Extracted Genetic Variants

CHRNA6

45 papers

RefSeq Summary

This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded prote...

Pfam Domains

Neur_chan_LBDaa 34–240UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 247–483UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 6 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 6; cholinergic receptor, nicotinic, alpha 6 (neuronal); cholinergic receptor, nicotinic alpha 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004198.3

p.K408E

c.1222A>G

Surrounding Variants

1 paper

NM_004198.3

p.Q414*

c.1240C>T

1 paper

NM_004198.3

p.E394*

c.1180G>T

1 paper

NM_004198.3

p.A379S

c.1135G>T

1 paper

NM_004198.3

p.A375S

c.1123G>T

1 paper

NM_004198.3

p.P371S

c.1111C>T

4 papers

NM_004198.3

p.N447S

c.1340A>G

1 paper

NM_004198.3

p.T365I

c.1094C>T

1 paper

NM_004198.3

p.D360Y

c.1078G>T

1 paper

NM_004198.3

p.W357R

c.1069T>C

1 paper

NM_004198.3

p.W357R

c.1069T>A

1 paper

NM_004198.3

p.M355L

c.1063A>T

1 paper

NM_004198.3

p.M355L

c.1063A>C