Varaico: Literature-Extracted Genetic Variants

Gene:CHRM3
Variant:p.R403K

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.R403K
c.1208G>A
Surrounding Variants
1 paper
NM_001375978.1
p.L396L
c.1188G>T
1 paper
NM_001375978.1
p.A410V
c.1229C>T
1 paper
NM_001375978.1
p.E395D
c.1185G>C
1 paper
NM_001375978.1
p.E395D
c.1185G>T
1 paper
NM_001375978.1
p.E395G
c.1184A>G
1 paper
NM_001375978.1
p.P392H
c.1175C>A
1 paper
NM_001375978.1
p.P392A
c.1174C>G
2 papers
NM_001375978.1
p.P392fs
c.1174_1175fs
1 paper
NM_001375978.1
p.V391_E395Fs
c.1173_1184delinsTFs
1 paper
NM_001375978.1
p.D415G
c.1244A>G
2 papers
NM_001375978.1
p.D416N
c.1246G>A
2 papers
NM_001375978.1
p.P428S
c.1282C>T
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