Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R420C

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
11 papers
NM_020549.5
p.R420C
c.1258C>T
Surrounding Variants
3 papers
NM_020549.5
p.W421S
c.1262G>C
3 papers
NM_020549.5
p.W421_Y422insFs
c.1263_1264insC
3 papers
NM_020549.5
p.D423delFs
c.1267delG
1 paper
NM_020549.5
p.G417A
c.1250G>C
4 papers
NM_020549.5
p.G417R
c.1249G>A
1 paper
NM_020549.5
p.D423N
c.1267G>A
3 papers
NM_020549.5
p.G417R
c.1249G>C
1 paper
NM_020549.5
p.K424N
c.1272G>C
1 paper
NM_020549.5
p.K424N
c.1272G>T
1 paper
NM_020549.5
p.G411A
c.1232G>C
2 papers
NM_020549.5
p.G411R
c.1231G>A
2 papers
NM_020549.5
p.G411R
c.1231G>C
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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."