Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.Q44*

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
2 papers
NM_000754.4
p.Q44*
c.130C>T
Surrounding Variants
3 papers
NM_000754.4
p.Q44K
c.130C>A
2 papers
NM_000754.4
p.Q44E
c.130C>G
3 papers
NM_000754.4
p.Q44P
c.131A>C
2 papers
NM_000754.4
p.Q44R
c.131A>G
3 papers
NM_000754.4
p.Q44L
c.131A>T
3 papers
NM_000754.4
p.Q44H
c.132G>C
3 papers
NM_000754.4
p.Q44H
c.132G>T
2 papers
NM_000754.4
p.L43Q
c.128T>A
2 papers
NM_000754.4
p.L43P
c.128T>C
2 papers
NM_000754.4
p.L43R
c.128T>G
3 papers
NM_000754.4
p.L43M
c.127C>A
1 paper
NM_000754.4
p.P45T
c.133C>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."