Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.P45H

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.P45H
c.134C>A
Surrounding Variants
2 papers
NM_000754.4
p.P45R
c.134C>G
2 papers
NM_000754.4
p.P45L
c.134C>T
1 paper
NM_000754.4
p.P45T
c.133C>A
1 paper
NM_000754.4
p.P45A
c.133C>G
1 paper
NM_000754.4
p.P45S
c.133C>T
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.Q44H
c.132G>C
3 papers
NM_000754.4
p.Q44H
c.132G>T
3 papers
NM_000754.4
p.Q44P
c.131A>C
2 papers
NM_000754.4
p.Q44R
c.131A>G
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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."