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.F69L

c.205T>C

Surrounding Variants

1 paper

NM_139320.2

p.F69L

c.207T>G

1 paper

NM_139320.2

p.F69L

c.207T>A

1 paper

NM_139320.2

p.R65P

c.194G>C

1 paper

NM_139320.2

p.R65C

c.193C>T

1 paper

NM_139320.2

p.C74F

c.221G>T

1 paper

NM_139320.2

p.D63N

c.187G>A

2 papers

NM_139320.2

p.L76fs

c.226_227fs

1 paper

NM_139320.2

p.L76delFs

c.227_228delCA

1 paper

NM_139320.2

p.L76del1

c.226_227delCAG

1 paper

NM_139320.2

p.S58N

c.173G>A

1 paper

NM_139320.2

p.S80T

c.238T>A

1 paper

NM_139320.2

p.I55T

c.164T>C