Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.E56D

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.E56D
c.168G>C
Surrounding Variants
1 paper
NM_000754.4
p.E56E
c.168G>A
2 papers
NM_000754.4
p.E56D
c.168G>T
2 papers
NM_000754.4
p.E56A
c.167A>C
2 papers
NM_000754.4
p.E56V
c.167A>T
2 papers
NM_000754.4
p.Q57K
c.169C>A
2 papers
NM_000754.4
p.Q57*
c.169C>T
2 papers
NM_000754.4
p.Q57P
c.170A>C
2 papers
NM_000754.4
p.Q57L
c.170A>T
3 papers
NM_000754.4
p.E56K
c.166G>A
2 papers
NM_000754.4
p.E56Q
c.166G>C
2 papers
NM_000754.4
p.E56*
c.166G>T
2 papers
NM_000754.4
p.K55N
c.165G>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."