Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R470P

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.R470P
c.1409G>C
Surrounding Variants
2 papers
NM_020549.5
p.R470*
c.1408C>T
1 paper
NM_020549.5
p.V461Splc
c.1383-1G>C
6 papers
NM_020549.5
p.R482G
c.1444A>G
1 paper
NM_020549.5
p.C487F
c.1460G>T
3 papers
NM_020549.5
p.S498P
c.1492T>C
7 papers
NM_020549.5
p.S498L
c.1493C>T
2 papers
NM_020549.5
p.L502P
c.1505T>C
2 papers
NM_020549.5
p.Q503insFs
c.1508_1509insC
1 paper
NM_020549.5
p.R504*
c.1510C>T
6 papers
NM_020549.5
p.V461M
c.1381G>A
2 papers
NM_020549.5
p.H460insFs
c.1378_1379insC
1 paper
NM_020549.5
p.K459M
c.1376A>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."