Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R561Q

CHAT

535 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons m...

Pfam Domains

Carn_acyltransfaa 134–713UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

choline O-acetyltransferase

HGNC Alias Symbol

CHOACTase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_020549.5
p.R561Q
c.1682G>A
Surrounding Variants
13 papers
NM_020549.5
p.R560H
c.1679G>A
1 paper
NM_020549.5
p.S558A
c.1672T>G
1 paper
NM_020549.5
p.A557V
c.1670C>T
11 papers
NM_020549.5
p.A557T
c.1669G>A
3 papers
NM_020549.5
p.R566C
c.1696C>T
1 paper
NM_020549.5
p.S556T
c.1667G>C
1 paper
NM_020549.5
p.V567M
c.1699G>A
1 paper
NM_020984.4
p.V449E
c.1346T>A
2 papers
NM_020549.5
p.E555K
c.1663G>A
1 paper
NM_020549.5
p.E555*
c.1663G>T
6 papers
NM_020549.5
p.T553N
c.1658C>A
1 paper
NM_020549.5
p.T553_Y554ins5
c.1657_1661ins15
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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."