Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.A72S

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
48 papers
NM_000754.4
p.A72S
c.214G>T
NM_007310.3
p.A22S
c.64G>T
Surrounding Variants
1 paper
NM_000754.4
p.A72T
c.214G>A
1 paper
NM_000754.4
p.N71K
c.213C>G
1 paper
NM_000754.4
p.Q73*
c.217C>T
5 papers
NM_000754.4
p.Q73P
c.218A>C
1 paper
NM_000754.4
p.Q73R
c.218A>G
1 paper
NM_000754.4
p.Q73Q
c.219G>A
1 paper
NM_000754.4
p.S74G
c.220A>G
1 paper
NM_000754.4
p.S74C
c.220A>T
2 papers
NM_000754.4
p.G70R
c.208G>A
2 papers
NM_000754.4
p.G70R
c.208G>C
1 paper
NM_000754.4
p.G70fs
c.208_209fs
1 paper
NM_000754.4
p.P69P
c.207C>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."