Varaico: Literature-Extracted Genetic Variants

Gene:CHRM5
Variant:p.K330R

CHRM5

51 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 47–495UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholinergic receptor muscarinic 5

HGNC Alias Name

acetylcholine receptor, muscarinic 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012125.4
p.K330R
c.989A>G
Surrounding Variants
1 paper
NM_012125.4
p.S332fs
c.994_995fs
1 paper
NM_012125.4
p.S332_P333delFs
c.996_997delCC
1 paper
NM_012125.4
p.K326Q
c.976A>C
1 paper
NM_012125.4
p.V320L
c.958G>C
2 papers
NM_012125.4
p.A316T
c.946G>A
1 paper
NM_012125.4
p.V347M
c.1039G>A
1 paper
NM_012125.4
p.S309L
c.926C>T
1 paper
NM_012125.4
p.P365L
c.1094C>T
1 paper
NM_012125.4
p.A366E
c.1097C>A
1 paper
NM_012125.4
p.A292S
c.874G>T
1 paper
NM_012125.4
p.R382Q
c.1145G>A
1 paper
NM_012125.4
p.A387S
c.1159G>T
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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."