Varaico: Literature-Extracted Genetic Variants

Gene:CHRM4
Variant:p.M323V

CHRM4

53 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 49–453UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholinergic receptor muscarinic 4

HGNC Alias Name

acetylcholine receptor, muscarinic 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000741.5
p.M323V
c.967A>G
Surrounding Variants
1 paper
NM_000741.5
p.P326T
c.976C>A
1 paper
NM_000741.5
p.R308C
c.922C>T
1 paper
NM_000741.5
p.N351S
c.1052A>G
1 paper
NM_000741.5
p.V287fs
c.859_860fs
1 paper
NM_000741.5
p.P284P
c.852G>A
5 papers
NM_000741.5
p.A362V
c.1085C>T
1 paper
NM_000741.5
p.A279V
c.836C>T
1 paper
NM_000741.5
p.P278fs
c.832_833fs
1 paper
NM_000741.5
p.P278fs
c.832_833fs
2 papers
NM_000741.5
p.P277insFs
c.830dupC
1 paper
NM_000741.5
p.L272_E273ins7
c.816_817ins21
1 paper
NM_000741.5
p.K271insFs
c.812_813ins7
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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."