Varaico: Literature-Extracted Genetic Variants

Gene:CHRM3
Variant:p.E259K

CHRM3

109 papers

RefSeq Summary

The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellu...

Pfam Domains

7tm_1aa 85–544UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholinergic receptor muscarinic 3

HGNC Alias Symbol

m3AChR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001375978.1
p.E259K
c.775G>A
Surrounding Variants
1 paper
NM_001375978.1
p.R261H
c.782G>A
1 paper
NM_001375978.1
p.W252R
c.754T>A
1 paper
NM_001375978.1
p.W252R
c.754T>C
1 paper
NM_001375978.1
p.I249N
c.746T>A
1 paper
NM_001375978.1
p.A275V
c.824C>T
1 paper
NM_001375978.1
p.E276K
c.826G>A
1 paper
NM_001375978.1
p.E278G
c.833A>G
1 paper
NM_001375978.1
p.T284M
c.851C>T
1 paper
NM_001375978.1
p.R288Q
c.863G>A
1 paper
NM_001375978.1
p.E228D
c.684G>C
1 paper
NM_001375978.1
p.E228D
c.684G>T
1 paper
NM_001375978.1
p.S292C
c.874A>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."