Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.I42N

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.I42N
c.125T>A
Surrounding Variants
3 papers
NM_000754.4
p.I42T
c.125T>C
1 paper
NM_000754.4
p.I42S
c.125T>G
2 papers
NM_000754.4
p.I42L
c.124A>C
2 papers
NM_000754.4
p.I42V
c.124A>G
2 papers
NM_000754.4
p.I42F
c.124A>T
3 papers
NM_000754.4
p.I42M
c.126C>G
3 papers
NM_000754.4
p.L43M
c.127C>A
2 papers
NM_000754.4
p.F41L
c.123C>A
3 papers
NM_000754.4
p.L43V
c.127C>G
2 papers
NM_000754.4
p.F41L
c.123C>G
3 papers
NM_000754.4
p.F41Y
c.122T>A
2 papers
NM_000754.4
p.L43Q
c.128T>A
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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."