Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.T54N

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.T54N
c.161C>A
Surrounding Variants
3 papers
NM_000754.4
p.T54I
c.161C>T
2 papers
NM_000754.4
p.K55Q
c.163A>C
2 papers
NM_000754.4
p.K55*
c.163A>T
2 papers
NM_000754.4
p.D53E
c.159C>A
2 papers
NM_000754.4
p.D53E
c.159C>G
1 paper
NM_000754.4
p.D53insFs
c.158_159insC
2 papers
NM_000754.4
p.D53A
c.158A>C
2 papers
NM_000754.4
p.K55T
c.164A>C
12 papers
NM_000754.4
p.D53G
c.158A>G
2 papers
NM_000754.4
p.K55M
c.164A>T
2 papers
NM_000754.4
p.K55N
c.165G>C
2 papers
NM_000754.4
p.K55N
c.165G>T
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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."