Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.N48D

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.N48D
c.142A>G
Surrounding Variants
3 papers
NM_000754.4
p.N48H
c.142A>C
1 paper
NM_000754.4
p.N48Y
c.142A>T
1 paper
NM_000754.4
p.N48_E56del0
c.144_167del24
3 papers
NM_000754.4
p.N48T
c.143A>C
3 papers
NM_000754.4
p.N48S
c.143A>G
3 papers
NM_000754.4
p.N48I
c.143A>T
3 papers
NM_000754.4
p.H47Q
c.141C>A
3 papers
NM_000754.4
p.H47Q
c.141C>G
3 papers
NM_000754.4
p.H47P
c.140A>C
3 papers
NM_000754.4
p.H47R
c.140A>G
2 papers
NM_000754.4
p.H47L
c.140A>T
1 paper
NM_000754.4
p.H47delFs
c.141delC
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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."