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

1 paper

NM_000743.5

p.L242fs

c.724_725fs

Surrounding Variants

1 paper

NM_000743.5

p.P241delFs

c.723delG

1 paper

NM_000743.5

p.L242fs

c.724_725fs

3 papers

NM_000743.5

p.L242delFs

c.725delA

1 paper

NM_000743.5

p.L240delFs

c.720delC

1 paper

NM_000743.5

p.Y244_T245insTTT

c.730_734ins9

1 paper

NM_000743.5

p.R239C

c.715C>T

1 paper

NM_000743.5

p.R239G

c.715C>G

1 paper

NM_000743.5

p.T245A

c.733A>G

1 paper

NM_000743.5

p.I237fs

c.709_710fs

1 paper

NM_000743.5

p.I237fs

c.709_710fs

3 papers

NM_000743.5

p.N247_L248insG

c.739_743ins3

3 papers

NM_000743.5

p.Y236_I237insFs

c.708_709insG