Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.K145E

CHRNA1

187 papers

RefSeq Summary

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a rol...

Pfam Domains

Neur_chan_LBDaa 24–231UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 238–446UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 1 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); cholinergic receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic alpha 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000079.4
p.K145E
c.433A>G
Surrounding Variants
1 paper
NM_000079.4
p.S146insFs
c.436_437insTG
1 paper
NM_000079.4
p.Y147fs
c.439_440fs
1 paper
NM_000079.4
p.A142D
c.425C>A
1 paper
NM_000079.4
p.C148S
c.442T>A
1 paper
NM_000079.4
p.A142T
c.424G>A
2 papers
NM_001039523.3
p.C173S
c.518G>C
NM_000079.4
p.C148S
c.443G>C
1 paper
NM_000079.4
p.P141L
c.422C>T
1 paper
NM_000079.4
p.Y147_C148delFs
c.440_444del5
1 paper
NM_000079.4
p.I151F
c.451A>T
2 papers
NM_000079.4
p.V152I
c.454G>A
1 paper
NM_000079.4
p.T153S
c.457A>T
1 paper
NM_000079.4
p.T153S
c.458C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."