Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L248P

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.L248P
c.743T>C
Surrounding Variants
1 paper
NM_000754.4
p.S246*
c.737C>A
1 paper
NM_000754.4
p.R251W
c.751A>T
1 paper
NM_000754.4
p.G256S
c.766G>A
5 papers
NM_000754.4
p.E240G
c.719A>G
1 paper
NM_000754.4
p.E240K
c.718G>A
2 papers
NM_000754.4
p.E258K
c.772G>A
1 paper
NM_007310.3
p.C188S
c.563G>C
1 paper
NM_007310.3
p.C188S
c.562T>A
2 papers
NM_000754.4
p.G235W
c.703G>T
1 paper
NM_000754.4
p.Y262C
c.785A>G
1 paper
NM_000754.4
p.K263M
c.788A>T
1 paper
NM_000754.4
p.H232P
c.695A>C
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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."