Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.E68A

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
1 paper
NM_000754.4
p.E68A
c.203A>C
Surrounding Variants
1 paper
NM_000754.4
p.P69insFs
c.207dupC
3 papers
NM_000754.4
p.A67A
c.201G>A
2 papers
NM_000754.4
p.A67V
c.200C>T
1 paper
NM_000754.4
p.G70_A72delFs
c.208_215del8
1 paper
NM_000754.4
p.P69P
c.207C>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.H66L
c.197A>T
1 paper
NM_000754.4
p.Q65fs
c.193_194fs
1 paper
NM_000754.4
p.N71K
c.213C>G
1 paper
NM_000754.4
p.A72T
c.214G>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."