Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.D219E

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.D219E
c.657C>G
Surrounding Variants
1 paper
NM_000754.4
p.N220K
c.660C>G
1 paper
NM_000754.4
p.A218D
c.653C>A
1 paper
NM_000754.4
p.V221E
c.662T>A
1 paper
NM_000754.4
p.L217V
c.649C>G
1 paper
NM_000754.4
p.T214I
c.641C>T
1 paper
NM_000754.4
p.G213E
c.638G>A
14 papers
NM_000754.4
p.A226V
c.677C>T
1 paper
NM_000754.4
p.G213R
c.637G>A
1 paper
NM_000754.4
p.G213R
c.637G>C
1 paper
NM_000754.4
p.G213W
c.637G>T
1 paper
NM_000754.4
p.K212K
c.636G>A
3 papers
NM_000754.4
p.K212R
c.635A>G
NM_007310.3
p.K162R
c.485A>G
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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."