Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_020549.5
p.M1L
c.1A>T
1 paper
NM_020549.5
p.M1I
c.3G>T
3 papers
NM_020549.5
p.G2R
c.4G>A
1 paper
NM_020549.5
p.A6_K7insFs
c.18_19insG
1 paper
NM_020549.5
p.R9G
c.25A>G
1 paper
NM_020549.5
p.R9M
c.26G>T
1 paper
NM_020549.5
p.G12delFs
c.35delG
1 paper
NM_020549.5
p.G12fs
c.34_35fs
1 paper
NM_020549.5
p.G14E
c.41G>A
1 paper
NM_020549.5
p.K16insFs
c.46_47insC
1 paper
NM_020549.5
p.W17G
c.49T>G
1 paper
NM_020549.5
p.W17*
c.50G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."