Varaico: Literature-Extracted Genetic Variants

Gene:CHRM1
Variant:p.R448S

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.R448S
c.1342C>A
Surrounding Variants
1 paper
NM_000738.3
p.R448H
c.1343G>A
6 papers
NM_000738.3
p.S451S
c.1353C>T
1 paper
NM_000738.3
p.R443H
c.1328G>A
1 paper
NM_000738.3
p.R443C
c.1327C>T
1 paper
NM_000738.3
p.R454C
c.1360C>T
1 paper
NM_000738.3
p.R454H
c.1361G>A
1 paper
NM_000738.3
p.R436G
c.1306C>G
1 paper
NM_000738.3
p.D427A
c.1280A>C
2 papers
NM_000738.3
p.F425S
c.1274T>C
2 papers
NM_000738.3
p.C417S
c.1250G>C
2 papers
NM_000738.3
p.C417R
c.1249T>C
2 papers
NM_000738.3
p.C417S
c.1249T>A
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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."