Varaico: Literature-Extracted Genetic Variants

Gene:CHRM2
Variant:p.R239M

CHRM2

113 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 to these receptors...

Pfam Domains

7tm_1aa 40–440UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholinergic receptor muscarinic 2

HGNC Alias Name

acetylcholine receptor, muscarinic 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001006630.2
p.R239M
c.716G>T
Surrounding Variants
1 paper
NM_001006630.2
p.R239S
c.717G>C
1 paper
NM_001006630.2
p.R239S
c.717G>T
1 paper
NM_001006630.2
p.L235M
c.703C>A
1 paper
NM_001006630.2
p.N244K
c.732C>A
1 paper
NM_001006630.2
p.N244K
c.732C>G
4 papers
NM_001006630.2
p.V231I
c.691G>A
1 paper
NM_001006630.2
p.V231L
c.691G>C
1 paper
NM_001006630.2
p.N227S
c.680A>G
1 paper
NM_001006630.2
p.A226V
c.677C>T
1 paper
NM_001006630.2
p.G254V
c.761G>T
1 paper
NM_001006630.2
p.K218Q
c.652A>C
1 paper
NM_001006630.2
p.K218E
c.652A>G
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