Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.H142insFs

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_007310.3
p.H142insFs
c.425_426insT
Surrounding Variants
2 papers
NM_000754.4
p.H192R
c.575A>G
5 papers
NM_000754.4
p.H192Q
c.576C>A
5 papers
NM_000754.4
p.H192Q
c.576C>G
1 paper
NM_000754.4
p.H192H
c.576C>T
2 papers
NM_000754.4
p.D191N
c.571G>A
1 paper
NM_000754.4
p.F189L
c.567C>A
1 paper
NM_000754.4
p.F189L
c.567C>G
1 paper
NM_000754.4
p.F189L
c.565T>C
1 paper
NM_000754.4
p.R196Q
c.587G>A
1 paper
NM_000754.4
p.L198M
c.592C>A
1 paper
NM_000754.4
p.D186D
c.558C>T
3 papers
NM_000754.4
p.P199L
c.596C>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."