Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R117C

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
1 paper
NM_020549.5
p.R117C
c.349C>T
Surrounding Variants
16 papers
NM_020549.5
p.A120T
c.358G>A
1 paper
NM_020549.5
p.T123P
c.367A>C
1 paper
NM_020549.5
p.L106V
c.316C>G
4 papers
NM_020549.5
p.G105G
c.315A>T
1 paper
NM_020549.5
p.E128E
c.384G>A
1 paper
NM_020549.5
p.G105V
c.314G>T
1 paper
NM_020549.5
p.P104A
c.310C>G
1 paper
NM_020549.5
p.P104S
c.310C>T
1 paper
NM_020549.5
p.P102H
c.305C>A
1 paper
NM_020549.5
p.P97R
c.290C>G
1 paper
NM_020549.5
p.P97L
c.290C>T
1 paper
NM_020549.5
p.G96Splc
c.287-1G>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."