Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.A710T

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.A710T
c.2128G>A
Surrounding Variants
1 paper
NM_001142933.2
p.E631K
c.1891G>A
1 paper
NM_020549.5
p.S705del1
c.2113_2114delAGC
5 papers
NM_020549.5
p.S704P
c.2110T>C
1 paper
NM_020549.5
p.S703ins1
c.2107_2108insAGG
3 papers
NM_020549.5
p.S704del1
c.2110_2111delTCT
11 papers
NM_020549.5
p.S694C
c.2081C>G
1 paper
NM_001142934.2
p.P608Q
c.1823C>A
2 papers
NM_020549.5
p.I693S
c.2078T>G
1 paper
NM_020549.5
p.T728I
c.2183C>T
1 paper
NM_020549.5
p.L690F
c.2068C>T
2 papers
NM_020549.5
p.I689I
c.2067C>T
3 papers
NM_020549.5
p.I689S
c.2066T>G
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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."