Varaico: Literature-Extracted Genetic Variants

CHRFAM7A

116 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 family member CHRNA7, which is located o...

Pfam Domains

Neur_chan_LBDaa 14–140UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 147–397UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion

HGNC Alias Symbols

D-10; CHRNA7-DR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139320.2

p.E191G

c.572A>G

Surrounding Variants

1 paper

NM_139320.2

p.D198N

c.592G>A

1 paper

NM_139320.2

p.D198A

c.593A>C

1 paper

NM_139320.2

p.V184I

c.550G>A

1 paper

NM_139320.2

p.A204Splc

c.610+1G>A

1 paper

NM_139320.2

p.I172N

c.515T>A

1 paper

NM_139320.2

p.E170Q

c.508G>C

1 paper

NM_148911.1

p.P74S

c.220C>T

1 paper

NM_139320.2

p.V161L

c.481G>T

1 paper

NM_139320.2

p.V161L

c.481G>C

1 paper

NM_139320.2

p.S155F

c.464C>T

1 paper

NM_139320.2

p.C151Y

c.452G>A

1 paper

NM_139320.2

p.I149_P150del2

c.445_449del6