Varaico: Literature-Extracted Genetic Variants

Gene:COMT

COMT

2,857 papers

RefSeq Summary

Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-met...

Pfam Domains

Methyltransf_3aa 67–228UCSCO-methyltransferase

Gene Aliases

HGNC Name

catechol-O-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 577 variants
2411 papers
NM_000754.4
p.V158M
c.472G>A
47 papers
NM_000754.4
p.A72S
c.214G>T
21 papers
NM_000754.4
p.H62H
c.186C>T
20 papers
NM_000754.4
p.L136L
c.408C>G
17 papers
NM_000754.4
p.K96R
c.287A>G
14 papers
NM_000754.4
p.A226V
c.677C>T
12 papers
NM_000754.4
p.D53G
c.158A>G
12 papers
NM_000754.4
p.P174L
c.521C>T
7 papers
NM_000754.4
p.A102T
c.304G>A
7 papers
NM_000754.4
p.Q108Q
c.324G>A
6 papers
NM_000754.4
p.C34S
c.100T>A
6 papers
NM_000754.4
p.C34S
c.101G>C
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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."