Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.Q311P

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.Q311P
c.932A>C
Surrounding Variants
1 paper
NM_020549.5
p.V306I
c.916G>A
4 papers
NM_020549.5
p.V306L
c.916G>C
4 papers
NM_020549.5
p.V306L
c.916G>T
13 papers
NM_020549.5
p.I305T
c.914T>C
3 papers
NM_020549.5
p.V304I
c.910G>A
3 papers
NM_020549.5
p.V304delFs
c.911delT
5 papers
NM_020549.5
p.P301L
c.902C>T
3 papers
NM_020549.5
p.P301S
c.901C>T
2 papers
NM_020549.5
p.P299L
c.896C>T
2 papers
NM_020549.5
p.G284S
c.850G>A
2 papers
NM_020984.4
p.R163W
c.487C>T
NM_020549.5
p.R281W
c.841C>T
1 paper
NM_020549.5
p.Q262*
c.784C>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."