Varaico: Literature-Extracted Genetic Variants

CHRNA3

148 papers

RefSeq Summary

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This loc...

Pfam Domains

Neur_chan_LBDaa 35–241UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 248–495UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 3 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 3; cholinergic receptor, nicotinic, alpha 3 (neuronal); cholinergic receptor, nicotinic alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000743.5

p.Q89_I90Splc

c.267+2T>G

Surrounding Variants

1 paper

NM_000743.5

p.T83fs

c.247_248fs

1 paper

NM_000743.5

p.T83fs

c.247_248fs

3 papers

NM_000743.5

p.T83insFs

c.247_248insG

1 paper

NM_000743.5

p.E82ins1

c.244_245insTTT

1 paper

NM_000743.5

p.I80ins1

c.238_239insCTG

1 paper

NM_000743.5

p.Q79Q

c.237G>A

4 papers

NM_000743.5

p.S67_S69del3

c.199_206del9

1 paper

NM_000743.5

p.I61_S69del9

c.181_206del27

1 paper

NM_000743.5

p.S69P

c.205T>C

1 paper

NM_000743.5

p.F64F

c.192C>T

1 paper

NM_000743.5

p.H63_F64insCTG

c.187_191ins9

1 paper

NM_000743.5

p.V60A

c.179T>C