Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.N142K

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.N142K
c.426C>A
Surrounding Variants
1 paper
NM_000754.4
p.N142K
c.426C>G
2 papers
NM_000754.4
p.P143P
c.429C>T
2 papers
NM_000754.4
p.D144N
c.430G>A
1 paper
NM_007310.3
p.I91T
c.272T>C
1 paper
NM_000754.4
p.D144G
c.431A>G
1 paper
NM_000754.4
p.D144E
c.432C>G
1 paper
NM_007310.3
p.C95S
c.283T>A
2 papers
NM_000754.4
p.E140K
c.418G>A
1 paper
NM_007310.3
p.C95S
c.284G>C
6 papers
NM_000754.4
p.A146V
c.437C>T
3 papers
NM_000754.4
p.A146A
c.438C>T
2 papers
NM_000754.4
p.A147T
c.439G>A
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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."