Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.Y180F

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.Y180F
c.539A>T
Surrounding Variants
1 paper
NM_000754.4
p.D181D
c.543T>C
1 paper
NM_000754.4
p.T184I
c.551C>T
1 paper
NM_000754.4
p.L185P
c.554T>C
12 papers
NM_000754.4
p.P174L
c.521C>T
1 paper
NM_000754.4
p.D186D
c.558C>T
1 paper
NM_000754.4
p.I172I
c.516C>T
1 paper
NM_000754.4
p.F189L
c.565T>C
1 paper
NM_000754.4
p.D171G
c.512A>G
1 paper
NM_000754.4
p.F189L
c.567C>A
1 paper
NM_000754.4
p.F189L
c.567C>G
2 papers
NM_000754.4
p.D191N
c.571G>A
1 paper
NM_000754.4
p.S169fs
c.505_506fs
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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."