Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.V194L

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
9 papers
NM_020549.5
p.V194L
c.580G>C
Surrounding Variants
9 papers
NM_020549.5
p.V194L
c.580G>T
1 paper
NM_020549.5
p.D201G
c.602A>G
1 paper
NM_020549.5
p.M202K
c.605T>A
4 papers
NM_020549.5
p.M202R
c.605T>G
1 paper
NM_020549.5
p.N206Y
c.616A>T
1 paper
NM_020549.5
p.R207G
c.619C>G
1 paper
NM_020549.5
p.R207C
c.619C>T
4 papers
NM_020549.5
p.R207H
c.620G>A
13 papers
NM_020549.5
p.L210P
c.629T>C
11 papers
NM_020549.5
p.P211A
c.631C>G
1 paper
NM_020549.5
p.P211S
c.631C>T
1 paper
NM_020549.5
p.P211L
c.632C>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."