Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.P69S

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.P69S
c.205C>T
Surrounding Variants
1 paper
NM_020549.5
p.P69T
c.205C>A
1 paper
NM_020549.5
p.A72V
c.215C>T
1 paper
NM_020549.5
p.A63A
c.189T>A
1 paper
NM_020549.5
p.P75T
c.223C>A
1 paper
NM_020549.5
p.P75R
c.224C>G
1 paper
NM_020549.5
p.R62G
c.184C>G
1 paper
NM_020549.5
p.P61S
c.181C>T
1 paper
NM_020549.5
p.P79S
c.235C>T
1 paper
NM_020549.5
p.S58R
c.174C>A
1 paper
NM_020549.5
p.S58R
c.174C>G
1 paper
NM_020549.5
p.S58R
c.172A>C
1 paper
NM_020549.5
p.W81*
c.242G>A
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