Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L19L

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.L19L
c.57G>T
Surrounding Variants
1 paper
NM_000754.4
p.L19L
c.57G>A
1 paper
NM_000754.4
p.V20M
c.58G>A
1 paper
NM_000754.4
p.V20L
c.58G>C
1 paper
NM_000754.4
p.V20L
c.58G>T
1 paper
NM_000754.4
p.L19Q
c.56T>A
2 papers
NM_000754.4
p.L19P
c.56T>C
1 paper
NM_000754.4
p.L19R
c.56T>G
1 paper
NM_000754.4
p.L19M
c.55C>A
1 paper
NM_000754.4
p.L19V
c.55C>G
1 paper
NM_000754.4
p.V20E
c.59T>A
1 paper
NM_000754.4
p.V20A
c.59T>C
1 paper
NM_000754.4
p.V20G
c.59T>G
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