Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.L324R

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.L324R
c.971T>G
Surrounding Variants
2 papers
NM_020549.5
p.R323H
c.968G>A
1 paper
NM_020549.5
p.R322R
c.966C>T
1 paper
NM_020549.5
p.R322H
c.965G>A
1 paper
NM_020549.5
p.V318D
c.953T>A
1 paper
NM_001142933.2
p.V235I
c.703G>A
1 paper
NM_020549.5
p.R334G
c.1000A>G
1 paper
NM_020549.5
p.F313fs
c.937_938fs
1 paper
NM_020549.5
p.F313delFs
c.938_939delTT
19 papers
NM_020549.5
p.I336T
c.1007T>C
1 paper
NM_020549.5
p.K338R
c.1013A>G
1 paper
NM_020549.5
p.S341F
c.1022C>T
3 papers
NM_020549.5
p.E343K
c.1027G>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."