Varaico: Literature-Extracted Genetic Variants

Gene:CHAT

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
1–12 of 270 variants
19 papers
NM_020549.5
p.I336T
c.1007T>C
16 papers
NM_020549.5
p.A120T
c.358G>A
13 papers
NM_020549.5
p.L210P
c.629T>C
13 papers
NM_020549.5
p.I305T
c.914T>C
13 papers
NM_020549.5
p.E441K
c.1321G>A
13 papers
NM_020549.5
p.R560H
c.1679G>A
11 papers
NM_020549.5
p.P211A
c.631C>G
11 papers
NM_020549.5
p.R420C
c.1258C>T
11 papers
NM_020549.5
p.A557T
c.1669G>A
11 papers
NM_020549.5
p.S694C
c.2081C>G
9 papers
NM_020549.5
p.V194L
c.580G>C
9 papers
NM_020549.5
p.V194L
c.580G>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."