Varaico: Literature-Extracted Genetic Variants

Gene:CHRM1
Variant:p.K392R

CHRM1

66 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 42–418UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholinergic receptor muscarinic 1

HGNC Alias Name

acetylcholine receptor, muscarinic 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000738.3
p.K392R
c.1175A>G
Surrounding Variants
1 paper
NM_000738.3
p.P380L
c.1139C>T
2 papers
NM_000738.3
p.C407C
c.1221C>T
1 paper
NM_000738.3
p.L372M
c.1114C>A
2 papers
NM_000738.3
p.C417R
c.1249T>C
2 papers
NM_000738.3
p.C417S
c.1249T>A
2 papers
NM_000738.3
p.C417S
c.1250G>C
2 papers
NM_000738.3
p.F425S
c.1274T>C
1 paper
NM_000738.3
p.D427A
c.1280A>C
1 paper
NM_000738.3
p.T354N
c.1061C>A
2 papers
NM_000738.3
p.R352W
c.1054C>T
1 paper
NM_000738.3
p.R436G
c.1306C>G
1 paper
NM_000738.3
p.R443C
c.1327C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."