Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.G93delFs

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_000754.4
p.G93delFs
c.278delG
Surrounding Variants
4 papers
NM_000754.4
p.V92M
c.274G>A
1 paper
NM_000754.4
p.N91K
c.273C>A
1 paper
NM_000754.4
p.N91K
c.273C>G
1 paper
NM_000754.4
p.N91N
c.273C>T
1 paper
NM_000754.4
p.G93D
c.278G>A
3 papers
NM_000754.4
p.G93V
c.278G>T
1 paper
NM_000754.4
p.N91D
c.271A>G
1 paper
NM_000754.4
p.D94N
c.280G>A
1 paper
NM_000754.4
p.M90T
c.269T>C
2 papers
NM_000754.4
p.M90V
c.268A>G
1 paper
NM_000754.4
p.A89A
c.267C>A
1 paper
NM_000754.4
p.A89A
c.267C>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."