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.D233G

c.698A>G

Surrounding Variants

1 paper

NM_139320.2

p.G235C

c.703G>T

1 paper

NM_139320.2

p.Y227_H228del2

c.679_683del6

1 paper

NM_139320.2

p.W240*

c.719G>A

1 paper

NM_139320.2

p.W240*

c.720G>A

2 papers

NM_139320.2

p.W240_T241Splc

c.720+5G>A

1 paper

NM_139320.2

p.V222M

c.664G>A

1 paper

NM_139320.2

p.A204Splc

c.610+1G>A

1 paper

NM_139320.2

p.D198A

c.593A>C

1 paper

NM_139320.2

p.D198N

c.592G>A

1 paper

NM_139320.2

p.E191G

c.572A>G

1 paper

NM_139320.2

p.V184I

c.550G>A

1 paper

NM_139320.2

p.M255I

c.765G>C