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.Y50N

c.148T>A

Surrounding Variants

1 paper

NM_139320.2

p.Q49H

c.147G>T

1 paper

NM_139320.2

p.Y50C

c.149A>G

1 paper

NM_139320.2

p.Y50S

c.149A>C

1 paper

NM_139320.2

p.L51fs

c.151_152fs

1 paper

NM_139320.2

p.Q49K

c.145C>A

1 paper

NM_139320.2

p.Y50delFs

c.149_150delGT

1 paper

NM_139320.2

p.H47N

c.139C>A

1 paper

NM_139320.2

p.E30D

c.90G>T

1 paper

NM_139320.2

p.E30D

c.90G>C

1 paper

NM_139320.2

p.I27T

c.80T>C

1 paper

NM_139320.2

p.D26delFs

c.76delC

2 papers

NM_139320.2

p.C25S

c.74G>C