Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.D80H

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
Selected Variant
2 papers
NM_000754.4
p.D80H
c.238G>C
Surrounding Variants
1 paper
NM_000754.4
p.I79T
c.236T>C
3 papers
NM_000754.4
p.T81A
c.241A>G
2 papers
NM_000754.4
p.T81I
c.242C>T
1 paper
NM_000754.4
p.A78S
c.232G>T
1 paper
NM_000754.4
p.Y82C
c.245A>G
1 paper
NM_007310.3
p.C33S
c.97T>A
1 paper
NM_007310.3
p.C33S
c.98G>C
1 paper
NM_000754.4
p.E84K
c.250G>A
1 paper
NM_000754.4
p.S74G
c.220A>G
1 paper
NM_000754.4
p.S74C
c.220A>T
1 paper
NM_000754.4
p.Q73Q
c.219G>A
5 papers
NM_000754.4
p.Q73P
c.218A>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."