Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.R125C

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.R125C
c.373C>T
Surrounding Variants
1 paper
NM_000754.4
p.R125G
c.373C>G
1 paper
NM_000754.4
p.V124V
c.372G>C
1 paper
NM_000754.4
p.M126V
c.376A>G
1 paper
NM_000754.4
p.V124M
c.370G>A
1 paper
NM_000754.4
p.V124L
c.370G>C
1 paper
NM_000754.4
p.V124L
c.370G>T
1 paper
NM_000754.4
p.A123D
c.368C>A
1 paper
NM_000754.4
p.A127P
c.379G>C
2 papers
NM_000754.4
p.R128G
c.382C>G
1 paper
NM_000754.4
p.R128C
c.382C>T
2 papers
NM_000754.4
p.R128H
c.383G>A
2 papers
NM_000754.4
p.R128P
c.383G>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."