Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.E84K

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
1 paper
NM_000754.4
p.E84K
c.250G>A
Surrounding Variants
1 paper
NM_007310.3
p.C33S
c.98G>C
1 paper
NM_007310.3
p.C33S
c.97T>A
1 paper
NM_000754.4
p.Y82C
c.245A>G
2 papers
NM_000754.4
p.T81I
c.242C>T
3 papers
NM_000754.4
p.T81A
c.241A>G
1 paper
NM_000754.4
p.E87E
c.261G>A
2 papers
NM_000754.4
p.D80H
c.238G>C
1 paper
NM_000754.4
p.W88*
c.263G>A
1 paper
NM_000754.4
p.I79T
c.236T>C
1 paper
NM_000754.4
p.A89P
c.265G>C
1 paper
NM_000754.4
p.A89G
c.266C>G
1 paper
NM_000754.4
p.A89A
c.267C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."