Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.S58R

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.S58R
c.172A>C
Surrounding Variants
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.P61S
c.181C>T
1 paper
NM_020549.5
p.R62G
c.184C>G
1 paper
NM_020549.5
p.G53R
c.157G>A
1 paper
NM_020549.5
p.G53R
c.157G>C
1 paper
NM_020549.5
p.A63A
c.189T>A
1 paper
NM_020549.5
p.G50S
c.148G>A
1 paper
NM_020549.5
p.G49A
c.146G>C
1 paper
NM_020549.5
p.V48F
c.142G>T
1 paper
NM_020549.5
p.D47E
c.141C>A
1 paper
NM_020549.5
p.D47E
c.141C>G
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