Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L49M

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
3 papers
NM_000754.4
p.L49M
c.145C>A
Surrounding Variants
3 papers
NM_000754.4
p.L49V
c.145C>G
3 papers
NM_000754.4
p.N48K
c.144C>A
3 papers
NM_000754.4
p.N48K
c.144C>G
1 paper
NM_000754.4
p.L49Q
c.146T>A
1 paper
NM_000754.4
p.L49P
c.146T>C
2 papers
NM_000754.4
p.L49R
c.146T>G
3 papers
NM_000754.4
p.N48T
c.143A>C
3 papers
NM_000754.4
p.N48S
c.143A>G
3 papers
NM_000754.4
p.N48I
c.143A>T
3 papers
NM_000754.4
p.N48H
c.142A>C
2 papers
NM_000754.4
p.N48D
c.142A>G
1 paper
NM_000754.4
p.N48Y
c.142A>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."