Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.I381_E382insFs

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.I381_E382insFs
c.1143_1144insC
Surrounding Variants
1 paper
NM_020549.5
p.E382G
c.1145A>G
3 papers
NM_020549.5
p.D379N
c.1135G>A
1 paper
NM_020549.5
p.C386R
c.1156T>C
1 paper
NM_020549.5
p.D376N
c.1126G>A
2 papers
NM_020549.5
p.R375Q
c.1124G>A
1 paper
NM_020549.5
p.R375delFs
c.1125delG
2 papers
NM_020549.5
p.C389R
c.1165T>C
1 paper
NM_020549.5
p.T373A
c.1117A>G
1 paper
NM_020549.5
p.D391delFs
c.1171delG
1 paper
NM_020549.5
p.V396M
c.1186G>A
2 papers
NM_020549.5
p.D400N
c.1198G>A
1 paper
NM_020549.5
p.A404V
c.1211C>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."