Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.N39K

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.N39K
c.117C>G
Surrounding Variants
1 paper
NM_000754.4
p.N39K
c.117C>A
2 papers
NM_000754.4
p.N39N
c.117C>T
1 paper
NM_000754.4
p.N39T
c.116A>C
1 paper
NM_000754.4
p.N39S
c.116A>G
1 paper
NM_000754.4
p.N39I
c.116A>T
3 papers
NM_000754.4
p.E40K
c.118G>A
3 papers
NM_000754.4
p.E40Q
c.118G>C
2 papers
NM_000754.4
p.E40*
c.118G>T
1 paper
NM_000754.4
p.E40insFs
c.120dupG
3 papers
NM_000754.4
p.E40A
c.119A>C
1 paper
NM_000754.4
p.N39H
c.115A>C
3 papers
NM_000754.4
p.N39D
c.115A>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."