Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L33R

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.L33R
c.98T>G
Surrounding Variants
1 paper
NM_000754.4
p.L33Q
c.98T>A
2 papers
NM_000754.4
p.L33P
c.98T>C
1 paper
NM_000754.4
p.L33M
c.97C>A
1 paper
NM_000754.4
p.L33V
c.97C>G
1 paper
NM_000754.4
p.L33L
c.97C>T
6 papers
NM_000754.4
p.C34S
c.100T>A
1 paper
NM_000754.4
p.C34R
c.100T>C
1 paper
NM_000754.4
p.C34G
c.100T>G
1 paper
NM_000754.4
p.G32D
c.95G>A
1 paper
NM_000754.4
p.C34Y
c.101G>A
6 papers
NM_000754.4
p.C34S
c.101G>C
1 paper
NM_000754.4
p.G32A
c.95G>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."