Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.I46T

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.I46T
c.137T>C
Surrounding Variants
3 papers
NM_000754.4
p.I46N
c.137T>A
1 paper
NM_000754.4
p.I46S
c.137T>G
2 papers
NM_000754.4
p.I46L
c.136A>C
2 papers
NM_000754.4
p.I46V
c.136A>G
2 papers
NM_000754.4
p.I46F
c.136A>T
3 papers
NM_000754.4
p.I46M
c.138C>G
1 paper
NM_000754.4
p.H47N
c.139C>A
2 papers
NM_000754.4
p.H47D
c.139C>G
1 paper
NM_000754.4
p.H47Y
c.139C>T
3 papers
NM_000754.4
p.H47P
c.140A>C
3 papers
NM_000754.4
p.H47R
c.140A>G
2 papers
NM_000754.4
p.H47L
c.140A>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."