Varaico: Literature-Extracted Genetic Variants

CHRNA9

54 papers

RefSeq Summary

This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalen...

Pfam Domains

Neur_chan_LBDaa 31–237UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 244–475UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 9 subunit

HGNC Alias Symbol

NACHRA9

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

6 papers

NM_017581.4

p.A315V

c.944C>T

4 papers

NM_017581.4

p.N442S

c.1325A>G

2 papers

NM_017581.4

p.A312T

c.934G>A

2 papers

NM_017581.4

p.R399C

c.1195C>T

2 papers

NM_017581.4

p.D437E

c.1311C>A

1 paper

NM_017581.4

p.N2S

c.5A>G

1 paper

NM_017581.4

p.I13I

c.39C>T

1 paper

NM_017581.4

p.R47H

c.140G>A

1 paper

NM_017581.4

p.T63M

c.188C>T

1 paper

NM_017581.4

p.T63T

c.189G>A

1 paper

NM_017581.4

p.Y80C

c.239A>G

1 paper

NM_017581.4

p.T93M

c.278C>T