Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.L307F

CHRNA2

140 papers

RefSeq Summary

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal recept...

Pfam Domains

Neur_chan_LBDaa 59–265UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 272–520UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 2 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal); cholinergic receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic alpha 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000742.4
p.L307F
c.919C>T
Surrounding Variants
1 paper
NM_000742.4
p.K296del1
c.886_887delCTT
8 papers
NM_000742.4
p.I297F
c.889A>T
1 paper
NM_000742.4
p.I318N
c.953T>A
2 papers
NM_000742.4
p.E295K
c.883G>A
1 paper
NM_000742.4
p.D292E
c.876C>G
1 paper
NM_000742.4
p.T321insFs
c.961dupA
1 paper
NM_000742.4
p.D292E
c.876C>A
1 paper
NM_000742.4
p.T321fs
c.961_962fs
1 paper
NM_000742.4
p.P326L
c.977C>T
2 papers
NM_000742.4
p.Y331*
c.993C>G
2 papers
NM_000742.4
p.Y331*
c.993C>A
3 papers
NM_000742.4
p.S280F
c.839C>T
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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."