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.I27T

c.80T>C

Surrounding Variants

1 paper

NM_139320.2

p.D26delFs

c.76delC

2 papers

NM_139320.2

p.C25S

c.74G>C

2 papers

NM_139320.2

p.C25S

c.73T>A

1 paper

NM_139320.2

p.I21T

c.62T>C

1 paper

NM_139320.2

p.Q17H

c.51G>C

1 paper

NM_139320.2

p.F12L

c.36C>A

1 paper

NM_139320.2

p.C5G

c.13T>G

2 papers

NM_139320.2

p.Y4ins1

c.11_12insGTT

1 paper

NM_139320.2

p.K3Q

c.7A>C

1 paper

NM_139320.2

p.M1insFs

c.2dupT

1 paper

NM_139320.2

p.E30D

c.90G>T

1 paper

NM_139320.2

p.E30D

c.90G>C