Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L8Q

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.L8Q
c.23T>A
Surrounding Variants
1 paper
NM_000754.4
p.L8R
c.23T>G
1 paper
NM_000754.4
p.L8M
c.22C>A
1 paper
NM_000754.4
p.L8V
c.22C>G
1 paper
NM_000754.4
p.L9M
c.25T>A
1 paper
NM_000754.4
p.L9V
c.25T>G
1 paper
NM_000754.4
p.L7Q
c.20T>A
1 paper
NM_000754.4
p.L7P
c.20T>C
1 paper
NM_000754.4
p.L9S
c.26T>C
1 paper
NM_000754.4
p.L7R
c.20T>G
2 papers
NM_000754.4
p.L7M
c.19C>A
1 paper
NM_000754.4
p.L7V
c.19C>G
1 paper
NM_000754.4
p.A10T
c.28G>A
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