Varaico: Literature-Extracted Genetic Variants

Gene:CHRM3
Variant:p.S345Y

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.S345Y
c.1034C>A
Surrounding Variants
1 paper
NM_001375978.1
p.E355K
c.1063G>A
2 papers
NM_001375978.1
p.G358A
c.1073G>C
1 paper
NM_001375978.1
p.T361M
c.1082C>T
1 paper
NM_001375978.1
p.S324Y
c.971C>A
1 paper
NM_001375978.1
p.S366delins
c.1097delinsG
3 papers
NM_001375978.1
p.W320*
c.960G>A
3 papers
NM_001375978.1
p.W320*
c.959G>A
1 paper
NM_001375978.1
p.P372L
c.1115C>T
1 paper
NM_001375978.1
p.R302C
c.904C>T
1 paper
NM_001375978.1
p.V391_E395Fs
c.1173_1184delinsTFs
1 paper
NM_001375978.1
p.P392A
c.1174C>G
2 papers
NM_001375978.1
p.P392fs
c.1174_1175fs
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